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PAEDEATRICS  -­‐  Medical  
 
INTRODUCTION  AND  OVERVIEW  OF  CHILD  HEALTH  
What  is  Child  Health?  
•

Age-­‐related  specialty  0  to  14/16  years  old  
! Incorporates  puberty  

 
Definitions  
•

Neonate:    birth  to  28  days  

•

Infant:    28  days  to  1  year  

•

Child  1  year  to  12  years  

•

Adolescent:    12  years  to  18  years  (counts  as  “adult”  with  regards  to  resuscitation  guidelines  
–  a  child  is  from  1  year  to  puberty  in  these  guidelines)  

 
Diseases  become  apparent  according  to  age  
Newborn:  
•

RDS   (Respiratory   distress   syndrome):   restrictive   lung   disease   due   to   a   deficiency   of  
surfactant   in   the   lungs   of   a   baby   born   prematurely
...
   Alveoli  are  collapsed
...
   Prevent  with  
maternal   steroids   if   risk   of   preterm   birth
...
   CXR  appearance:    ground  glass
...
    Fluid  
may  be  seen  in  lungs  e
...
 in  horizontal  fissure
...
g
...
 Exanthems  can  
be   caused   by   toxins   or   drugs,   microorganisms,   or   can   result   from   autoimmune   disease
...
     

•

Accidents  

•

SID   (sensory   integration   disorder):     used   to   characterize   children   who   exhibit   exaggerated  
sensitivity   to   sensory   stimuli
...
 
 

School  age:      
•

Cognitive  disorder  

•

Accidents:  RTAs  

•

Sexual  and  emotional  difficulties  

 
Low  birth  weight  
•

The  average  birth  weight  of  a  full  term  (37-­‐42  weeks)  is  approximately  3
...
5kg  

•

Very  low  birth  weight  is  less  than  1
...
2  

 

Lower  respiratory  tract  infection  

 

                   

13
...
8  

 

Gastroenteritis    

 

 

 

 

8
...
7  

 

Convulsions  

 

 

 

 

4
...
0  

 

Malignancy  

 

 

 

 

3
...
4  

 

Renal  tract  infection  

 

 

 

 

1
...
g
...
   Head  circumference  is  
also  monitored  particularly  during  infancy
...
   Given  at  2,3  and  4  months
...
   
Given  at  2  and  3  months  (with  booster  at  12-­‐13  months)
...
    In   infancy   growth   (28   days   to   1   year)   is   nutrition  
driven,  in  childhood  (1  year  to  puberty)  it  is  GH  led,  and  in  puberty  it  is  sex  hormone  driven
...
g
...
    If  
excessively   small   and   excessively   low   weight   =>   consider   malnutrition,   malabsorption   etc  
(e
...
 failure  to  thrive)
...
g
...
g
...
g
...
g
...
   

•

When   a   child's   growth   seems   to   be   lagging   behind,   the  cause  may  be  a  natural  growth  delay  
or  a  growth  disorder
...
 

•

Short  stature  may  be  a  normal  expression  of  a  person's  genetic  potential  (e
...
 familial  short  
stature)  and,  therefore,  the  growth  rate  is  normal
...
 

•

A  child  is  considered  to  be  short  if  he  or  she  has  a  height  below  the  3rd  or  5th  percentile  
on   a   growth   chart
...
 However,  many  of  these  children  have  normal  growth  velocities
...
 
The  presence  of  a  normal  growth  velocity  is  very  reassuring
...
     They  will  have  normal  growth  velocity
...
   

•

Of  all  children  with  short  stature,  only  a  few  have  a  specific  treatable  medical  condition
...
 A  downward  growth  (crossing  centiles  downwards)  
trend  suggests  a  slowdown  in  growth  and  possibly  a  growth  problem
...
   

 
The  causes  of  short  stature  can  be  divided  into  4  broad  categories:    
•

Chronic   disease   (failure   to   thrive):   including   malnutrition   (e
...
  neglect,   GI   disorders   e
...
 
celiac)  and  genetic  disorders  

•

Endocrine  diseases  (rare  causes  of  short  stature)    

•

Familial  short  stature  

•

Constitutional  delay  of  growth  and  development  

Most   short   children   evaluated   by   clinicians   in   developed   countries   have   familial   short   stature,  
constitutional  growth  delay,  or  both
...
 
In  some  cases,  short  stature  or  slow  growth  is  the  initial  sign  of  a  serious  underlying  disease
...
 If  your  child  is  growing  at  a  
normal  rate,  yet  is  small  for  his  or  her  age  (relative  to  parents  size),  it  is  called  a  
constitutional  growth  delay  (CGD)
...
 

Puberty  may  also  be  delayed  until  bone  growth  catches  up  =>  often  cross  down  
centiles   at   puberty   when   their   peers   have   accelerated   growth   phase
...
   
CGD   is   not   a   disease;   it   is   a   variation   of   normal   growth
...
  They   will   have   a  
catch   up   period   of   growth   during   their   delayed   puberty
...
   Remember  that  their  growth  velocity  
will  be  normal  (post  infancy)
...
g
...
g
...
g
...
 

•

Chronic  disease:      Cardiovascular  disease,  respiratory  disease,  haemoglobinopathies,  kidney  
disease,  acidosis,  malignancy,  neurological  (e
...
 hydrocephalus)
...
 

•

Chromosomal  abnormalities:  Turner's  syndrome,  trisomy  syndromes
...
 

•

Drugs:      Steroids  
 

Failure  to  thrive  
•

Failure  to  thrive  (FTT)  =  poor  weight  gain  in  infancy  and  early  childhood  (falling  across  centile  
lines  due  to  poor  growth  velocity)  

•

When   children   younger   than   age   3   do   not   gain   weight   or   grow   as   expected,   it   may   be   a  
condition  known  as  failure  to  thrive
...
g
...
  Malnutrition   is   the   most   common   cause   of   growth   failure   around   the  
world
...
g
...
 

 
Assessment  
•

Growth   assessment:   There   is   a   wide   normal   variation   in   growth;   we   therefore   have   to  
quantify  growth  to  assess  for  growth  failure  or  growth  excess  

•

Developmental  assessment:  There  is  also  a  wide  normal   variation  in  development;  we  again  
have   to   compare   with   “normal”   developmental   milestones   to   assess   for   early   or   late  
development  
 

Techniques  of  measurement:  
•

Height  

•

Length  

•

Weight  

•

BMI  

•

Head  circumference  

•

Developmental  milestones  

 
Indications  for  referral  include:  
•

Height:  height  fails  to  progress  along  the  appropriate  centile  curve  or  height  crosses  centiles  

•

Growth  velocity:  decreased  growth  velocity  for  age
...
g
...
 

 
Minimise  Error  
•

Accurate  equipment  

•

Reproducible  technique  

•

Erect  posture  

•

Frankfurt  Plane  for  reliability  and  consistency  (anatomical  position  of  the  human  skull)  

•

Accurate  plotting  (small  neat  dots)  

 
Centile  charts  
•

•

Centile   charts   show   the   position   of   a   measured   parameter   within   a   statistical   distribution
...
  They   merely   show   how   it  
compares  with  that  measurement  in  other  individuals
...
 On  the  97th  centile,  97  would  be  
shorter  and  3  taller
...
 The  parameter  such  as  height,  weight  or  head  circumference  is  shown  
on  the  y  axis  and  the  age  or  gestation  on  the  x-­‐axis
...
  These   would  
usually  be  the  50th  centile  (average),  25th  and  75th  centiles  as  well  as  the  3rd  and/or  10th  
centile  and  the  90th  and/or  97th  centile
...
  Centile   charts   are   very   useful   for   plotting   changing   parameters   such   as   assessing   a  
child's  height,  weight,  BMI,  or  pubertal  developmental  over  time  or  head  circumference  for  
an  infant  or  fetus
...
 Not  only  does  this  automatically  label  3%  or  even  10%  
of   the   population   as   "abnormal"   (when   many   of   these   cases   will   be   normal   e
...
  due   to  
familial  short  stature  or  CGD)  but  some  cases  of  abnormality  will  be  missed
...
  Serial   (multiple)   measurements   are  
needed   to   provide   information   on   a   child’s   growth
...
g
...
 

•

What  matters  is  not  so  much  an  isolated  value,  but  how  the  value  changes  with  time
...
 

•

Very   few   babies   grow   along   the   same   centile   line   from   birth   with   about   half   crossing   at  
least   one   centile   band   (the   distance   between   2   centile   lines)   up   or   down   during   the   first  
year
...
   

•

Note:    It  is  expected  that  all  newborns  will  lose  some  weight  in  the  first  5-­‐7  days  of  life
...
  A   7%-­‐10%   loss   is   considered  
normal  for  the  breastfed  baby
...
     

•

Infant  growth  is  not  a  linear  process  (despite  how  growth  is  represented  by  centile  lines),  
and  babies  measured  too  frequently  may  see  times  of  ‘zero’  growth
...
   

•

A   mid-­‐parental   stature   should   be   considered   if   there   are   concerns   about   the   child’s   short-­‐
stature
...
 
! Boys  MPH:    Fathers  height  +  (mothers  height  +  13cm)  /2    
! Girls  MPH:    Mothers  height  +  (fathers  height  –  13cm)  /2  
! Then  plot  MPH  +/-­‐  9cm  
 

 
 
Height  velocity  centile  chart  
•

The  most  rapid  phase  of  growth  occurs  in  the  foetus  inside  the  mother's  uterus
...
     Nutrition  led
...
   GH  led
...
 
Children  are  small  for  their  age,  and  have  a  decreased  bone  age,  but  are  growing  at  a  normal  
growth   rate   (velocity)
...
 These  children  continue  to  grow  after  most  of  their  peers  have  
stopped  (cross  back  up  centile)
...
   
 

 
 
Normal  growth  patterns  
•

Most  healthy  infants  and  children  grow  in  a  predictable  fashion,  following  a  typical  pattern  
of  progression  in  weight,  length,  and  head  circumference
...
  On   the   other   hand,   children   with   almost   any   subacute   or   chronic   illness   may   grow  
slower  than  normal
...
  There   are   three  
phases  of  postnatal  growth:  infantile  (rapid  growth  velocity),  childhood  (slow  almost  linear  
growth  velocity),  and  pubertal  (rapid  growth  velocity),  each  with  its  own  distinctive  pattern
...
 
 

 
 
Example:  Is  there  a  growth  problem?  
•

First  height  measurement  at  6
...
g
...
   Therefore  we  can  say  
that  this  child  has  short  stature  (currently)  however  we  cannot  say  anything  else  based  on  
this  one  off  result
...
 
Looking   at   the   trajectory   of   the   child’s   growth   would   be   much   more   useful
...
     

•

It   is   essential   to   take   a   detailed   history   and   examination   (including   developmental  
assessment)  

•

Measure   parents   height,   in   order   to   calculate   a   mid-­‐parental   height   (taking   into   account   sex  
difference   between   parent   and   child),   which   is   useful   for   predicting   the   target   height   of   a  
child
...
    We   need   a  
series  of  measurements  to  establish  a  growth  pattern  over  a  significant  period  of  time      

•

From   a   second   height   measurement   we   can   calculate   a   height   velocity   (height   change   per  
year)
...
 

•

Key   points:     SERIAL   growth   charts,   height   velocity   charts,   detailed   history   and   exam  
including  developmental  history,  patients  parents  heights  (MPH)
...
   

 
Estimating  if  there  is  a  growth  problem  
•

Centile  height  value  –  more  important  to  look  at  series  of  these  results    

•

Centile  height  velocity  

•

Appropriate/inappropriate  for  parents?  

•

Monitor  closely  

 
Skeletal  Maturation:  Bone  Age  
•

Comparison  of  skeletal  age  with  chronological  age  

•

Skeletal  age  defined  against  normal  standards  

•

Scoring  system  for  long  and  short  bones  
! bone  appearance  
! bone  density  and  shape  
 

Constitutional  growth  delay  (CGD)  
Children   with   constitutional   growth   delay   (CGD),   the   most   common   cause   of   short   stature   and  
pubertal  delay  in  males,  typically  have  retarded  linear  growth  within  the  first  3  years  of  life  (infancy)  
but  normal  rate  of  childhood  growth,  albeit  delayed
...
 At  that  time,  growth  resumes  at  a  normal  rate,  and  these  children  grow  either  along  
the   lower   growth   percentiles   or   beneath   the   curve   but   parallel   to   it   for   the   remainder   of   the  
prepubertal  years
...
 
•
•

Height  velocity  acceptable  (after  3  years  old)  

•

Inappropriate  for  parents  height  –  as  delayed  growth    

•

Delay  in  skeletal  maturation  (decreased  bone  age)  

•

Delay   in   puberty   until   bone   age   catches   up   (may   cross   centile   as   peers   have   accelerated  
growth)  

•
 

No  specific  diagnosis  (CGD  is  a  diagnosis  by  exclusion)  

Catch  up  during  puberty    

  
 
Familial  short  stature  
In  contrast  to  CGD,  the  hallmarks  of  familial  short  stature  (also  referred  to  as  genetic  short  stature)  
include:  
•

Bone  age  appropriate  for  chronologic  age  

•

Normal  growth  velocity  

•

Predicted  adult  height  appropriate  to  the  familial  pattern
...
  It   occurs   as   a   sporadic   mutation   in  
approximately  80%  of  cases  (associated  with  advanced  paternal  age)  or  may  be  inherited  as  
an  autosomal  dominant  genetic  disorder
...
   

  
 
 
 
Syndromes  with  abnormal  growth  

 
 
 
Turners  syndrome  
•

Syndrome  in  females  due  to  45X  (missing  X  chromosome)  

•

Occurring  in  1  in  2000  -­‐  1  in  5000  phenotypic  females  

•

Dysmorphic   features   (e
...
  webbed   neck,   low   set   ears,   short   fourth   metacarpal,   nail  
dysplasia,  high  palate)  

•

Coarctation  of  the  aorta  

•

Short  stature  

•

Girls  with  Turner  syndrome  typically  experience  gonadal  dysfunction  (non-­‐working  ovaries),  
which   results   in   amenorrhea   (absence   of   menstrual   cycle)   and   infertility
...
     

•

Concurrent   health   concerns   may   also   be   present,   including   congenital   heart   disease,  
hypothyroidism   (reduced   hormone   secretion   by   the   thyroid),   diabetes,   vision   problems,  
hearing  concerns,  and  many  autoimmune  diseases
...
    It   used   to   be   referred   to   as   the   male   version   of  
Turner's   syndrome   and   is   still   sometimes   described   in   this   way,   however,   the   genetic   causes  
of  Noonan  syndrome  and  Turner  syndrome  are  distinct
...
     

•

A   characteristic   configuration   of   facial   features   including   a   webbed   neck   and   a   flat   nose  
bridge
...
 It  is  one  of  the  most  common  genetic  syndromes  associated  with  congenital  
heart  disease,  similar  in  frequency  to  Down  syndrome
...
  Therefore,   the   syndrome   is   not   always  
identified  at  an  early  age
...
   

•

It   is   one   of   200   types   of   dwarfism   and   one   of   five   types   of   primordial   dwarfism   and   is   one   of  
the  few  forms  that  is  considered  treatable  in  some  cases
...
   
 

  
 
Psychosocial  growth  disturbance  
•

Psychosocial   short   stature   (PSS)   is   a   disorder   of   short   stature   or   growth   failure   and/or  
delayed  puberty  of  infancy,  childhood,  and  adolescence  that  is  observed  in  association  with  
emotional  deprivation,  a  pathologic  psychosocial  environment,  or  both
...
   

 

 
 
 

Thyroid  deficiency  
•

The  most  common  manifestation  of  hypothyroidism  in  children  is  declining  growth  velocity,  
often  resulting  in  short  stature
...
    Thus,   any   child   with   declining   growth  
velocity  should  be  evaluated  for  hypothyroidism  

•

Another  common  feature  is  altered  school  performance
...
 One  reason  for  delay  in  diagnosis  is  that  parents  
see  the  latter  changes  as  positive
...
   

•

If   the   cause   is   hypothalamic   or   pituitary   disease,   the   child   may   have   headaches,   visual  
symptoms   (bitemporal   hemianopia),   or   manifestations   of   other   pituitary   hormone  
deficiencies
...
 
They  are  also  more  easily  rectified
...
   

•

Crossing  of  head  circumference  is  cause  for  concern  and  needs  further  investigation
...
0    

•

Overweight  =  BMI  >  25
...
g
...
 

•

For   clinical   use,   overweight   children   are   those   with   a   BMI   ≥91st   centile   of   the   UK   1990  
reference  chart  for  age  and  sex  

•

For  clinical  use,  obese  children  are  those  with  a  BMI  ≥98th  centile  of  the  UK  1990  reference  
chart  for  age  and  sex  
 

Treatment  
•

Treatment   programmes   for   managing   childhood   obesity   should   incorporate   behaviour  
change   components,   be   family   based,   involving   at   least   one   parent/carer   and   aim   to   change  
the   whole   family’s   lifestyle
...
 

 
Treatment  Goals:  
•

In  most  obese  children  (BMI  ≥98th  centile)  weight  maintenance  is  an  acceptable  treatment  
goal  

•

However  for  children  with  a  BMI  ≥  99
...
5–
1
...
 
Annual   monitoring   of   BMI   centile   may   be   appropriate   to   help   reinforce   weight   maintenance  
and  reduce  the  risk  of  overweight  children  becoming  obese  

For  children  the  goal  of  is  often  weight  maintenance  rather  than  weight  loss
...
  However,   for   an   obese   child,   maintaining   weight   while   waiting   to   grow   taller   may   be   as  
difficult   as   losing   weight   is   for   older   people
...
g
...
  In   healthy   children,   60   minutes   of  
moderate-­‐vigorous  physical  activity/day  is  recommended    

•

Reducing  time  spent  in  sedentary  behaviour  (e
...
 watching  television  and  playing  computer  
games)  to  <2  hours/day  on  average  or  the  equivalent  of  14  hours/week  

  
Pharmacological  Treatment  in  young  people  
•

Orlistat   (lipase   inhibitor   =>   cant   digest   and   absorb   fats)   should   only   be   prescribed   for  
severely   obese   adolescents   (those   with   a   BMI   ≥   99
...
5   SD   above   the   mean   of   the   UK   1990   reference   chart   for   age   and   sex)   attending   a  
specialist  clinic
...
5  SD  above  the  mean  on  1990  UK  charts)  and  severe  comorbidities
...
g
...
g
...
6th  centile)  

•

Suspect  an  underlying  medical  cause  of  obesity  if  a  child  is  obese  and  also  short  for  their  age
...
 On  
the   basis   of   compelling   epidemiological   evidence,   they   hypothesized   that   fetal   and   perinatal   (period  
immediately   before   and   after   birth)   events,   such   as   maternal   undernutrition,   were   central   to  
determine   one’s   risk   to   develop   chronic   metabolic   diseases
...
   
The  Barker  hypothesis  states  that:  fetal  and  infant  malnutrition  ‘programmes’  metabolism  through  
to  adulthood
...
    IUGR   can  
contribute  to  developing  many  conditions  later  in  life  such  as:  
•

Risk  of  CVD  

•

Hypertension  

•

Hyperinsulinaemia  and  insulin  resistance  

•

Abnormal  liver  cell  structure  

•

Obesity  

 
Thrifty  phenotype  
•

The   thrifty   phenotype   hypothesis   says   that   reduced   fetal   growth   (IUGR)   is   strongly  
associated  with  a  number  of  chronic  conditions  later  in  life
...
e
...
   

•

Proponents   of   this   idea   say   that   in   poor   nutritional   conditions,   a   pregnant   woman   can  
modify  the  development  of  her  unborn  child  such  that  it  will  be  prepared  for  survival  in  an  
environment   in   which   resources   are   likely   to   be   short,   resulting   in   a   thrifty   phenotype  
(Barkers  hypothesis)
...
    These   adaptations   are   in  
response   to   a   perceived   environment   that   is   chronically   short   of   food
...
     

•

Those   with   a   thrifty   phenotype   who   actually   develop   in   an   affluent   environment   may   be  
more   prone   to   metabolic   disorders,   such   as   obesity,   CV   disease   and   type   II   diabetes,  
whereas   those   who   have   received   adequate   nutrition   will   be   adapted   to   good   conditions  
and  therefore  better  able  to  cope  with  rich  diets
...
     

 

 
 
 
Genetic  Theories  of  Type  2  diabetes  
•

Thrifty  phenotype  altering  glucose/insulin  metabolism  

•

Gene  markers  e
...
 glucose  transport  and  intracellular  regulators    

•

Lipid  (obesity)  induced  insulin  resistance  

•

A  common  variant  in  the  FTO  gene  predisposes  to  childhood  and  adult  obesity  (which  in  turn  
predisposes  to  T2DM)  
 

Risk  of  Metabolic  Syndrome  
Metabolic   syndrome   is   a   combination   of   the   medical   disorders   that,   when   occurring   together,  
increase  the  risk  of  developing  cardiovascular  disease  and  diabetes
...
   
IUGR  results  in  significant  perinatal  and  long-­‐term  complications,  including  the  development  of  a  
thrifty  phenotype  and  insulin  resistance/metabolic  syndrome  in  adulthood
...
 The  causes  can  be  many,  but  most  often  involve  poor  maternal  nutrition  or  
lack   of   adequate   oxygen   supply   (e
...
  placental   insufficiency)   to   the   fetus
...
 
 
NORMAL  CHILD  NEURODEVELOPMENT  
A  child’s  developmental  level  is  the  end  result  of  a  wide  variety  of  factors,  antenatal,  perinatal  and  
postnatal,  including  genetic,  nutritional  &  environmental  factors  amongst  many  others
...
   An  example  
here  would  be  crawling
...
   About  7%  of  infants  
will  bottom  shuffle  instead,  with  a  further  1%  commando  crawling,  1%  rolling  and  1%  back  torpedo  
shuffling!    These  are  all  normal  variations
...
    We   can   therefore   compare   him   with   the   average   performance  
of   other   infants   at   that   age,   and   we   can   say   something   about   his   rate   of   development,   and   his  
developmental  potential  (but  not  make  firm  predictions  of  future  achievements  or  abilities)
...
 

The  sequence  of  development  is  the  same  in  all  children  (e
...
 sit  before  can  walk),  but  the  rate  of  
development   varies   from   child   to   child
...
g
...
 
Development  is  dependent  on  maturation  of  the  nervous  system  –  no  amount  of  practice  can  make  
a  child  walk  before  the  nervous  system  is  ready  to  do  so
...
    It   is  
important   for   these   primitive   reflexes   to   be   lost   so   that   development   can   occur   (particular   motor  
development)
...
     
•

Rooting   and   sucking:   The   rooting   reflex   is   present   at   birth   and   disappears   around   four  
months   of   age,   as   it   gradually   comes   under   voluntary   control
...
 A  newborn  infant  will  turn  his  head  toward  anything  that  strokes  
his  cheek  or  mouth,  searching  for  the  object  by  moving  his  head  in  steadily  decreasing  arcs  
until   the   object   is   found
...
 It  is  linked  with  the  rooting  reflex  and  breastfeeding
...
     

•

Palmar  and  plantar  grasp:  If  an  object  is  placed  in  the  palm,  the  fingers  will  flex  &  grip  the  
object
...
    These   are   thought   to   be   related   to   our   origins   from   apes,   and  
again  should  disappear  by  roughly  3  months
...
 The  reflex  can  take  one  of  two  forms
...
  An   upward  
response   (dorsiflexion   or   extension   of   toes)   of   the   hallux   is   known   as   a   Babinski   sign
...
   Infants  will  also  show  a  dorsiflexion/extensor  (Babinski  +ve)  response
...
 This  happens  
because   the   corticospinal   pathways   that   run   from   the   brain   down   the   spinal   cord   are   not  
fully  myelinated  at  this  age,  so  the  reflex  is  not  inhibited  by  the  cerebral  cortex
...
 

•

Stepping  and  placing:  The  walking  or  stepping  reflex  is  present  at  birth;  though  infants  this  
young   cannot   support   their   own   weight
...
  This   reflex  disappears   at  
six   weeks   due   to   an   increased   ratio   of   leg   weight   to   strength
...
 

•

ATNR   (asymmetrical   tonic   neck   reflex):   The   tonic   neck   reflex,   also   known   as   asymmetric  
tonic   neck   reflex   is   present   at   one   month   of   age   and   disappears   at   around   four   months
...
 If  the  infant  is  
unable  to  move  out  of  this  position  or  the  reflex  continues  to  be  triggered  past  six  months  of  
age,   the   child   may   have   a   disorder   of   the   upper   motor   neurons
...
  It   also  
prepares   the   infant   for   voluntary   reaching
...
  It  
involves  3  distinct  components:  spreading  out  the  arms  (abduction),  unspreading  the  arms  
(adduction)  and  crying  (usually)  

 
Gross  motor  development:  milestones  
Head  control  

 

 

   3  months  

Sitting  balanced      

 

 6  months  

Crawling  

 

   9  months  

Standing/Walking  

 

12  months  

Runs                                  

       

18  months  

 

Rides  trike  (tricycle)          

24  months  

Stairs                                      

36  months  

 

If  we  start  with  gross  motor  development,  these  are  the  average  age  of  attaining  major  milestones  in  
the  first  3  years
...
g
...
     
 
 
Hearing  and  language  (speech  and  comprehension)  
When   we   are   assessing   language   development,   depending   on   the   age   of   the   child,   we   are   looking   at  
a  number  of  different  components  for  communication
...
 It  seems  obvious,  but  if  you  can’t  hear  language,  
how  can  you  learn  its  meaning  or  develop  speech?  
Next,  we  think  about  comprehension,  the  infant’s  ability  to  understand  language-­‐  does  he  know  his  
name,  can  he  follow  instructions  and  if  so,  simple  or  more  complex?  
Then   expressive   language,   the   ability   to   communicate   verbally   –   in   single   words,   phrases   or  
sentences,   and   also   articulation   –   the   ability   to   pronounce   words   clearly,   which   can   be   closely  
related  to  motor  development
...
   Communication  is  
much  more  closely  linked  to  cognitive  development  (learning  ability)  than  is  motor  development
...
      Delayed   communication   does   not   necessarily   indicate   learning  
difficulties,  as  many  other  factors  can  contribute  e
...
 Simple  glue  ear  (common  childhood  condition  
in   which   the   middle   ear   becomes   filled   with   fluid),   but   can   indicate   problems   such   as   autism   and  
need  to  be  closely  assessed
...
   In  addition,  
there  is  an  extra  milestone  at  6  weeks  –  the  very  important  development  of  the  social  smile
...
 
As   with   all   areas   of   development,   lack   of   opportunity   can   hold   back   development
...
 
 
Social  smile                                                                                        

 

6  weeks  

Follows  adult                                                                                    

 

3  months  

Plays  peek  boo                                                                                

 

 9  months  

Drinks  from  cup    

 

 

   

12  months  

Feeds  with  spoon  

 

 

                             18  months  

Puts  on  clothes/  symbolic  play                              

24  months  

Pretend  interactive  play/  toilet  trained    

36  months    

 
 
PROBELMS  WITH  CHILD  DEVELOPMENT    
•

Disorders  of  Development  are  common  

•

1%  of  UK  child  population  has  Autism  

•

1-­‐2%  have  mild  learning  disability  (mild  learning  disability  is  IQ  50-­‐70)  

•

0
...
5%  severe  learning  disability  (severe  learning  disability  IQ  less  than  50)  

•

5-­‐10%  have  a  specific  learning  difficulty  

 
Recognising  a  problem  
•

Parents  

•

Other  family  members  

•

Nursery,  playgroup,  school  

•

GP    

•

Incidental  finding  

•

Health  Visitor  

 
Screening  and  surveillance    
•

Developmental  assessment  is  part  of  the  routine  8  week  and  2  year  check  

 
6-­‐8  week  check  
•

Examination:   particular   emphasis   on   eyes   (cataracts),   heart   (congenital   heart   disease)   and  
hips  (DDH)  

•

Growth:  lengtht,  weight,  BMI,  head  circumference  

•

Blood  spot  results:  Blood  spot  screening  helps  to  identify  babies  thought  to  be  affected  by  
the  following  conditions:  phenylketonuria  (PKU),  congenital  hypothyroidism  (CHT),  sickle  cell  
disease  (SCD)  and  cystic  fibrosis  (CF)
...
g
...
 
•

History  

•

Examination  

•

Observation  

•

Developmental  assessment  

•

Investigations  

•

Interventions  and  referrals  to  other  team  members  

•

Information  and  support  for  parents  
 

History  
•

PC  and  HPC  

•

Parents  ICE’s  and  referrer’s  ICE’s  

•

Birth  history:    Antenatal,  perinatal  and  neonatal  history  (also  see  case  notes)  

•

Feeding  and  toileting  

•

Growth   and   development   e
...
  developmental   milestones   (where   remembered),   growth  
charts  

•

Past  medical  history  (also  see  case  notes)  

•

DH,  allergies  and  vaccinations  

•

Family  history  e
...
 learning  difficulties  at  school,  autism,  ADHD  

•

SH  and  family  history:  children  with  socially  deprived  backgrounds  can  have  developmental  
problems
...
g
...
g
...
   
Consult   with   colleagues   e
...
  neurology,   biochemist,   geneticist   etc
...
g
...
g
...
g
...
  In   general,   more   disabling   problems   are  
recognised  earlier  as  the  difference  from  the  normal  development  is  more  obvious
...
g
...
g
...
g
...
g
...
g
...
 It  implies  that  there  will  be  a  catch  
up  in  development  which  is  often  not  the  case
...
 Therefore  a  delay  of  6  
months  in  a  two  year  old  will  not  still  be  a  6  month  delay  when  they  are  10  years  old-­‐  the  
difference  between  the  child  and  peer  will  often  be  much  greater
...
   They  begin  in  childhood  and  last  through  adulthood
...
    Problems   with   social   interaction   is   a  
key  characteristic  of  all  ASDs
...
 Problems  with  language  
are  a  key  feature  of  autism
...
     

•

Unusual  patterns  of  thought  and  physical  behaviour  –  including  making  repetitive  physical  
movements,  such  as  hand  tapping  or  twisting
...
     
 

There  are  three  main  types  of  ASD  
•

All  present  <  36  months    

•

Autistic  disorder  (sometimes  known  as  "classic  autism")  

•

Asperger  syndrome  –  preserved  language  and  cognition    

•

Pervasive   developmental   disorder   –   not   otherwise   specified   (PDD-­‐NOS),   also   known   as  
"atypical  autism"  

 
Autistic  disorder  
•

Children   with   autistic   disorder   usually   have   significant   problems   with   language,   social  
interaction  and  behaviour  =>  global  developmental  delay  

•

Many   children   with   autistic   disorder   also   have   learning   difficulties   and   below-­‐average  
intelligence
...
 However,  they  often  have  problems  in  
certain  areas  of  language,  such  as  understanding  humour  or  figures  of  speech  ("It's  raining  
cats  and  dogs",  for  example)
...
  Some  
children   have   particular   skills   in   areas   that   require   logic,   memory   and   creativity,   such   as  
maths,  computer  science  and  music
...
  It   is   achieved   when   one   individual   alerts   another   to   an   object   by   means   of   eye-­‐
gazing,   pointing   or   other   verbal   or   non-­‐verbal   indications
...
  Difficulties   in  
establishing  joint  attention  may  partially  account  for  differences  in  social  abilities  of  children  
with  developmental  disorders  (i
...
 Autism  spectrum  disorders)  

•

Problems  with  turn  taking  

•

Unable  to  share  pleasure  

•

Failure  of  social  referencing:  Social  referencing  is  the  tendency  especially  in  children  to  look  
at  the  facial  expressions  that  others  display  when  they  are  not  sure  what  to  do  in  a  state  of  
affairs
...
 

•

Not  motivated  by  need  for  social  approval  

•

Lack  of  social  rules  

•

Deficit  in  empathy    

•

Relationship  difficulties  
 

ASD  behaviour  
•

Repetitive  behaviour  e
...
 repetitive  movements,  compulsions,  and  daily  rituals  

•

Restricted   behaviour   is   limited   in   focus,   interest,   or   activity,   such   as   preoccupation   with   a  
single  television  program,  toy,  or  game
...
   Deficits   occur   in   people  
with   autism   spectrum   disorders,   schizophrenia,   attention   deficit   hyperactivity   disorder,   as  
well  as  neurotoxicity  due  to  alcohol  abuse
...
 6-­‐9  months)  

•

Seen  by  paediatric  physiotherapist  

•

Reviewed  in  clinic  
 

Assessment  at  development  clinic  
•

History:   born   at   34   weeks   (preterm),   15   days   in   SCBU   (special   care   baby   unit),   apnoeas  
(suspension  of  respiration)  

•

Examination:  growing  well,  not  dysmorphic,  no  neurocutaneous  features,  increased  tone  at  
ankles,  brisk  reflexes,  plantar  reflex  (babinkis  sign,  normal  in  infants),    spine  normal  

•

Observation:  unhappy,  throwing  self  backwards  when  sitting,  unable  to  sit  or  roll    

•

Seen  by  physio:  advice  and  exercises  

•

Bloods  for  CK  done  as  muscular  dystrophy  could  potentially  be  the  cause  =>  CK  levels  came  
back  normal  
 

Differential  Diagnosis  
•

Isolated  gross  motor  delay?  

•

Familial?  

•

Muscular  dystrophy  

•

Spina  bifida  

•

Cerebral  palsy  –  preterm  is  risk  factor  
 

DIagnosis  
•

CK   levels   are   normal   indicating   that   muscular   dystrophy   is   not   the   cause   (muscular  
dystrophies  are  associated  with  very  high  levels  of  CK)  

•

The  upper  motor  neurone  lesion  signs  (hypertonia,  brisk  reflexes)  are  suggestive  of  cerebral  
palsy   (UMN/corticospinal   tract   lesion)
...
 

•

Cerebral   palsy   (CP)   describes   a   group   of   disorders   of   the   development   of   movement   and  
posture,  causing  activity  limitation,  that  are  attributed  to  non-­‐progressive  disturbances  that  
occurred  in  the  developing  fetal  or  infant  brain
...
 These  areas  are  

•

Gross  motor  skills:  e
...
 head  control  (usually  by  3  months),  sitting  up  (usually  by  6  months),  
crawling   (usually   by   9   months)   or   walking   (usually   by   12   months),   running   (18   months),   trike  
(24  months),  strairs  (36  months)  

•

Fine   motor   skills   and   vision:   hand   midline   (3   months),   grasping   objects   (6   months),   scissor  
grasp   (9   months),   fine   pincer   grasp   (12   months),   tower   of   3   (18   months),   tower   of   6   (24  
months),  tower  of  9  (36  months)  

•

Speech,   language   and   hearing:     which   also   includes   phonation   (3   months),   babbling   (6  
months),  imitating  speech  and  identifying  sounds  (9  months),  knows  name  (12  months),  as  
well  as  understanding  what  other  people  are  trying  to  communicate  to  them,  5-­‐20  words  (18  
months),  50  words  and  knows  short  commands  (24  months),  short  sentences  (36  months)  

•

Social,   behavioural   and   emotional   skills   -­‐   interacting   with   others   and   development   of  
personal  traits  and  feelings,  as  well  as  starting  to  understanding  and  respond  to  the  needs  
and   feelings   of   others
...
g
...
8%  

•

Seizures/epilepsy  6
...
2%  

•

Asthma  5
...
2%  

•

Head  injury  2
...
5%  

•

UTI  2
...
g
...
g
...
g   cytokine   storm)   to   a   serious  
infection,   most   commonly   bacteria,   but   also   fungi,   viruses,   and   parasites   in   the   blood,  
urinary  tract,  lungs,  skin,  or  other  tissues
...
   

•

In  the  very  young  and  elderly,  or  in  people  with  weakened  immune  systems,  the  pattern  of  
symptoms  may  be  atypical,  with  hypothermia  and  without  an  easily  localizable  infection
...
g
...
   

•

Sepsis  is  the  commonest  reason  for  acute  illness  in  children  

•

Varying   presentation:   but   fever,   tachycardia,   and   focal   signs   of   infection   should   instantly  
raise  the  suspicion  of  sepsis  

•

 

Sepsis  can  continue  even  after  the  infection  that  caused  it  is  gone
...
 

Supportive  and  antimicrobial  treatment    

Definitions  
•

•
•
•

SIRS:    two  or  more  of  the  following  
! T<36  ot  T>38  
! WCC  <4  or  >12  
! HR  >90  
! RR>20  
Sepsis  =  SIRS  +  known/suspected  infection  
Severe  sepsis  =  sepsis  +  end  organ  dysfunction  
Septic  shock  =  hypotension  due  to  sepsis  which  is  refractory  to  fluid  challenge,  or  requiring  
inotropic  support  

 
Respiratory  illnesses  which  can  cause  acute  illness  
•

Bronchiolitis:   inflammation   of   the   bronchioles,   the   smallest   air   passages   of   the   lungs
...
  It   presents   with   coughing,   wheezing   and   shortness   of   breath   which  
can   cause   some   children   difficulty   in   feeding
...
   Tx  =  O2
...
  The   infection   leads   to   swelling   inside   the   throat,  
which  interferes  with  normal  breathing  and  produces  the  classical  symptoms  of  a  "barking"  
cough,   stridor,   and   hoarseness
...
  Commonly   cause   by  
parainfluenzae  virus
...
g
...
g
...
g
...
 

•

Congenital  pyloric  stenosis,  Volvulus,  Intussusceptions  and  malrotation  are  common  causes  
of  GI  obstructions  in  children  

•

Appendicitis  is  the  most  common  acute  abdominal  condition  (history  of  dull  achy  umbilicus  
pain   which   translocates   to   a   sharp   more   localised   pain   over   McBurneys   point;   GI  
examination   including   rebound   tenderness   over   McBurneys   point,   and   pain   elicited   on  
flexion  of  right  thigh;  IX  include  US)  

 
GI  

  
 
Urogenital  
•

UTI’s  are  common  in  children  
 

Trauma  
•

RTA  

•

Trampoline,  sports  injuries  

•

Type:  Fractures,  Head  injury,  abdominal  injuries
...
 

 
Recognition  and  assessment  of  sick  child  
•

Airway  

•

Breathing  

•

Circulation  

•

Disability  

•

Exposure  

 
Potential  respiratory  failure  
•

Signs  of  increased  efforts  of  breathing:  
! Intercostal  and  sternal  recession    
! Increased  respiratory  rate    
! Accessory  muscle  use  
! Nasal  flare  (when  nostrils  widen  on  breathing)  
! Child’s  position  (e
...
 sitting  up  and  forward  clutching  onto  side  of  bed)  
! Sounds  e
...
 inspiratory  stridor,  expiratory  wheeze,  grunting  

 

•

Efficacy  of  breathing:  
! Chest  Expansion  
! Air  Entry  
! Saturations  (SpO2)  or  ABG  arterial  partial  pressure  of  O2  (Pa  O2)  
 

•

Effects  of  breathing:    
! Heart  rate  
! Skin  colour  
! Mental  status  

 
Potential  Circulatory  Failure  
Early  recognition  of  shock  
•

Circulatory  Signs:    
! Pulse  rate  (increased)  
! Pulse  volume  
! Capillary  refill  (increased  e
...
 >2  seconds)  
! Blood   Pressure     (decreased;   however   in   compensated   shock   BP   can   be  
maintained  due  to  tachycardia  and  peripheral  vasoconstriction)  
! Skin  temperature  (cold  due  to  compensatory  vasoconstriction)  
 

•

Effects  of  circulatory  inadequacy:    
! Respiratory  Rate  (increased)  
! Skin  Temperature  (cold)  and  colour  (pallor)  
! Mental  status  (decreased  cognition  and/or  consciousness)    
! Increased  capillary  refill  time  
 

NB:  Hypotension  is  a  pre-­‐terminal  sign  (e
...
 child  requires  URGENT  attention)  
 

Potential  central  neurological  failure  
•

Conscious  Level:  
! AVPU:   Alert,   Responds   to   Voice,   Responds   only   to   Pain,   Unresponsive   to   all  
stimuli  
! GCS  

•

Glucose  (DONT  EVER  FORGET  GLUCOSE)  

•

Pupils:  reactivity,  size  and  symmetry  

•

Posture:  
! Alert  
! Decorticate/Decerebrate  Posturing  
 

             
 

 

  
 
 
Exposure  
•

Core  body  temperature  (must  always  assess  to  check  for  infection,  however  never  exclude  
infection  based  on  normal  temperature  reading)  

•

Rash  and  bruising  

•

Haeomrrhage  

•

Top  to  toe  exam  

•

Burns  

•

Assess  drugs  kardex,  fluid  balance,  latest  blood  results  etc    

 
Summary:  Rapid  Assessment  
•

Airway  

•

Breathing  
! RR  
! Sats/SpO2  (however  PaO2  from  ABGs  is  more  reliable  and  can  also  give  us  further  
information)  

•

Circulation  
! Heart  Rate  
! BP  
! Capillary  Refill  Time  
! Skin  Temperature  
! Core  body  temperature  
! Skin  turgor  

•

Disability  
! Conscious  Level  (AVPU  and  GCS)  
! Glucose  
! Posture  
! Pupils  (reactivity,  size,  symmetry)  
 

 
IMMUNISATION  
Immunisation  is  the  process  by  which  an  individual's  immune  system  becomes  sensitised  against  an  
immunogen
...
g
...
 

•

Herd   immunity   theory   proposes   that,   in   contagious   diseases   that   are   transmitted   from  
individual  to  individual,  chains  of  infection  are  likely  to  be  disrupted  when  large  numbers  of  
a   population   are   immune   or   less   susceptible   to   the   disease
...
 

•

The  spread  of  an  infection  can  be  slowed  or  prevented  

•

The  unimmunised,  or  those  who  cannot  be  immunised  can  be  indirectly  protected  

 
Estimates  of  %  immunity  needed  for  eradication  (WHO)  
•

Malaria  80-­‐99%  

•

Pertussis  92-­‐94%  

•

Measles  83-­‐94%  

•

Poliomyelitis  80-­‐86%  

•

Mumps  75-­‐86%  

•

Rubella  83-­‐85%  

 
Important  points  
•

Immunisation  only  works  if  enough  people  are  immunised  =>  herd  immunity  

•

Determined  by  perception  of  relative  risks  and  benefits  

 
Contraindications  to  vaccinations  
•

Acute  illness  at  the  time  

•

Severe  local  reaction  to  previous  dose  

•

General  reaction  

•

Fever  >  39
...
 

•

It   is   characterized   by   sore   throat,   low   fever,   and   a   white   adherent   membrane   (a  
pseudomembrane)  on  the  tonsils,  pharynx,  and/or  nasal  cavity
...
 influenzae  are  opportunistic  pathogens;  that  is,  they  usually  live  in  their  
host   without   causing   disease,   but   cause   problems   only   when   other   factors   (such   as   a   viral  
infection,   reduced   immune   function   or   chronically   inflamed   tissues,   e
...
  from   allergies)  
create  an  opportunity
...
 influenzae  type  b  (Hib)  can  cause  bacteraemia,  pneumonia,  
epiglottitis  and  acute  bacterial  meningitis
...
  influenzae   strains   are   unaffected   by   the   Hib   vaccine   and   cause   ear  
infections   (otitis   media),   eye   infections   (conjunctivitis),   and   sinusitis   in   children,   and   are  
associated  with  pneumonia
...
   

•

Can  cause  meningococcal  meningitis  or  septicaemia  (purpuric  rash)  

•

While   best   known   as   a   cause   of   meningitis,   widespread   blood   infection   (sepsis)   is   more  
damaging   and   dangerous
...
 

•

Meningococcemia,   like   many   gram-­‐negative   blood   infections,   can   cause   sepsis   and  
disseminated   intravascular   coagulation   (DIC),   which   is   the   inappropriate   clotting   of   blood  
within   the   vessels
...
 Small  bleeds  
into  the  skin  cause  the  characteristic  petechial  rash
...
K
...
 Example  =  neonatal  tetanus
...
   Example  =  smallpox
...
 
Example=  none
...
   

•

The  term  derives  from  inflammation  of  the  grey  matter  of  the  spinal  cord  (particular  motor  
component),   although   a   severe   infection   can   extend   into   the   brainstem   and   even   higher  
structures,   resulting   in   polioencephalitis,   which   may   result   in   apnoea   that   requires  
mechanical  assistance  such  as  a  negative  pressure  ventilator  

•

Poliomyelitis  cases  have  decreased  by  over  99%  since  1988  

•

The  reduction  is  the  result  of  the  global  effort  to  eradicate  the  disease  

•

However   in   2006   there   was   a   new   outbreak   which   also   re-­‐infected   eight   previously   polio-­‐
free  countries  across  west  and  central  Africa
...
 

•

Ninety  per  cent  of  deaths  due  to  malaria  occur  in  Africa  south  of  the  Sahara  

•

Malaria  kills  an  African  child  every  30  seconds
...
 

 
 
Obesity  
•

CYT009-­‐GhrQb:  the  first  true  "fat  vaccine"  to  enter  human  clinical  trials  

•

Therapeutic  vaccine  in  development  for  the  treatment  of  obesity  

•

Instructs  the  patient’s  immune  system  to  produce  a  specific  anti-­‐ghrelin  antibody  response  

•

Ghrelin  is  a  peptide  regulator  of  eating  behaviour
...
g
...
   Some  examples  include:  
•

Turner  syndrome  affects  females  and  results  from  a  single  X  chromosome  (45XO)  

•

Klinefelter  syndrome  (47  XXY)  is  caused  by  an  extra  X  chromosome  in  males  

•

Down  syndrome  (trisomy  of  chromosome  21  –  non  disjunction  is  commonest  cause)  

•

Can  also  use  if  don’t  know  where  to  look  
 

FISH  (fluorescence  in  situ  hybridization)  
•

For  detecting  small  missing  pieces  of  chromosome  

•

Must  know  where  to  look  

•

However,  can  tag  chromosomes  to  look  for  common  aneuploidies    

 
PCR  (polymerase  chain  reaction)  amplification  and  sequencing  
•

The   polymerase   chain   reaction   (PCR)   is   a   biochemical   technology   in   molecular   biology   to  
amplify   a   single   or   a   few   copies   of   a   piece   of   DNA   across   several   orders   of   magnitude,  
generating  thousands  to  millions  of  copies  of  a  particular  DNA  sequence
...
   
Commonest  cause  (approx  95%)  
! Robertosnian  translocation  (approx  4%)  –  ‘hereditary’  
! Mosaicism  (uncommon  approx  1%)  

•

The   signs   and   symptoms   of   Down   syndrome   are   characterized   by   the   neotenization   of   the  
brain  and  body
...
     

•

Individuals   with   Down   syndrome   (DS)   may   have   some   or   all   of   the   following   physical  
characteristics:  microgenia  (abnormally  small  chin),  oblique  eye  fissures  on  the  inner  corner  
of  the  eyes,  muscle  hypotonia  (poor  muscle  tone),  a  flat  nasal  bridge,  a  protruding  tongue  
(due   to   small   oral   cavity,   and   an   enlarged   tongue   near   the   tonsils)   or   macroglossia   (large  
tongue),  flat  and  broad  face,  and  short  stature
...
  Adults   with   DS   tend   to   have   short  
stature  and  bowed  legs  (Genu  varum)
...
  The   medical  
consequences   of   the   extra   genetic   material   in   Down   syndrome   are   highly   variable,   may  
affect  the  function  of  any  organ  system  or  bodily  process,  and  can  contribute  to  a  shorter  life  
expectancy  for  people  with  Down  syndrome
...
     

                     

 

 
Robertsonian  translocation  
•

Robertsonian   translocation   is   a   common   form   of   chromosomal   rearrangement   that   in  
humans   occurs   in   the   five   acrocentric   chromosome   pairs   (a   chromosome   in   which   the  
centromere  is  located  quite  near  one  end  of  the  chromosome),  namely  13,  14,  15,  21,  and  
22
...
   

•

In   humans,   when   a   Robertsonian   translocation   joins   the   long   arm   of   chromosome   21   with  
the  long  arm  of  chromosome  14  (or  15),  the  heterozygous  carrier  is  phenotypically  normal  
because   there   are   two   copies   of   all   major   chromosome   arms   and   hence   two   copies   of   all  
essential   genes
...
 

•

About   one   in   a   thousand   newborns   has   a   Robertsonian   translocation
...
     
•

A   Robertsonian   translocation   in   balanced   form   results   in   no   excess   or   deficit   of   genetic  
material  and  causes  no  health  difficulties
...
 

 

 
 
Why  would  you  call  a  geneticist  
•

Child  with  unusual  clinical  presentation  

•

Facial  appearance  

•

Malformations  e
...
 congenital  heart  disease  

•

Neurological  problems  

•

Complex  phenotype  

•

Child  with  learning  difficulties  

 
History  
•

Start  at  the  beginning  

•

Pregnancy   (antenatal):   exposure   to   medication/drugs/alcohol   and   any   complications   in  
pregnancy  

•

Perinatal   e
...
  delivery   (type,   complications),   birthweight   and   OFC   (Occipito-­‐Frontal  
Circumference)  

•

Postnatal  

•

Grown  and  development:    Gross  motor,  fine  motor  and  visual,    social  and  emotional,  speech  
and  language  including  hearing  

•

Feeding  and  toileting  

•

Medical  History    

•

DH,  allergies  and  vaccinations  

•

Family  history  

•

Sleeping  

•

Behavior    

 

 

Examination  
•

Look  at  the  whole  child:  hands,  face,  skin,  back  

•

Examine  the  systems:  CV,  respiratory,  GI,  GU,  neurological  

•

Plot  the  growth  chart  including  OFC  (head  circumference)  
 
 

Dysmorphic  Features  
Dysmorphic  feature  is  a  medical  term  referring  to  a  difference  of  body  structure  that  is  suggestive  of  
a  congenital  disorder,  genetic  syndrome,  or  birth  defect
...
 

•

Originally,  the  wild  type  was  conceptualized  as  a  product  of  the  standard,  "normal"  allele  at  
a  locus,  in  contrast  to  that  produced  by  a  non-­‐standard,  "mutant"  allele
...
     

•

The  FGFR3  gene  (fibroblast  growth  factor  receptor  3  gene)  provides  instructions  for  making  
a   protein   called   fibroblast   growth   factor   receptor   3
...
 These  proteins  
play   a   role   in   several   important   cellular   processes,   including   regulation   of   cell   growth   and  
division,  determination  of  cell  type,  formation  of  blood  vessels,  wound  healing,  and  embryo  
development
...
  It   occurs   as   a   sporadic   mutation   in  
approximately  80%  of  cases  (associated  with  advanced  paternal  age)  or  may  be  inherited  as  
an  autosomal  dominant  genetic  disorder
...
   The  disorder  itself  is  caused  by  a  change  in  
the   DNA   for   fibroblast   growth   factor   receptor   3   (FGFR3),   which   causes   an   abnormality   of  
cartilage  formation
...
  Both   mutations   lead   to   the   same   change   in   the  
FGFR3  protein
...
   
Therefore,  children  of  an  affected  parent  have  a  50%  chance  of  having  the  disease
...
 

 
 
Clinical  case  1  
•

Child  who  has  global  developmental  delay  that  was  first  diagnosed  at  the  age  of  11  months
...
 

•

X   linked   conditions   which   present   with   developmental   delays   and   the   absence   of  
dysmorphic  features  include:  Hunter  syndrome  

•

Fragile   X   syndrome   is   one   of   the   commonest   X   linked   conditions   causing   developmental  
delays  in  boys
...
     

 
Fragile  X  
•

Caused   by   triplet   repeat   expansion   mutation   (CGG   trinucleotide   repeat)   on   the   X  
chromosome  

•

Complex  inheritance  pattern:  some  say  it  is  X  linked  dominant,  and  others  say  it  is  X  linked  
recessive  

•

Fragile  X  syndrome  is  a  genetic  syndrome  that  is  the  most  widespread  single-­‐gene  cause  of  
autism  and  inherited  cause  of  intellectual  disability  among  boys
...
 

•

It   is   also   associated   with   behavioral   characteristics   such   as   stereotypic   movements   (e
...
 
hand-­‐flapping),  and  social  anxiety
...
   
Meconium  is  normally  stored  in  the  infant's  intestines  until  after  birth,  but  sometimes  (often  
in   response   to   fetal   distress)   it   is   expelled   into   the   amniotic   fluid   prior   to   birth,   or   during  
labor
...
   Scores  7  and  above  are  generally  normal,  
4  to  6  fairly  low,  and  3  and  below  are  generally  regarded  as  critically  low)  

•

In  SCBU  (Special  Care  Baby  Unit)  for  24  hours  

•

Sat  at  10  months,  walked  at  2  years
...
  This   implies  
there   is   a   normal   allele   that   is   prevalent   in   the   population   and   that   the   mutation   changes  
this  to  a  rare  and  abnormal  variant
...
 
In  this  case  no  single  allele  is  regarded  as  the  standard  sequence
...
 The  arbitrary  cut-­‐off  point  between  a  mutation  and  a  
polymorphism  is  1%
...
 If  the  frequency  is  lower  than  this,  the  
allele  is  regarded  as  a  mutation
...
    If   the   parents   have   no  
intellectual   disabilities   and   the   deletion   is   present   then   it   is   likely   the   deletion   is   just   a  
polymorphism
...
   In  contrast  if  the  parents  have  normal  
neurodevelopment  and  do  not  have  the  deletion,  then  it  is  possible  this  deletion  in  Jack  is  in  
fact  causative  (a  mutation)
...
   
We  don’t  need  to  know  where  to  look  when  performing  karyotype  chromosome  analysis
...
   Use  this  when  we  are  
not  really  sure  what  is  the  problem
...
g
...
   FISH  looks  
at  parts  of  chromosomes,  where  as  PCR  looks  at  individual  parts  of  genes
...
   However   both   can   be   used   to   tag  
chromosomes  to  look  for  common  aneuploidies
...
     
Note  that  infancy  is  the  most  rapid  phase  of  growth  e
...
 highest  growth  velocity
...
   There  is  another  peak  in  growth  velocity  during  puberty
...
 

•

Vitamin   A   has   multiple   functions,   it   is   important   for   growth   and   development,   for   the  
maintenance  of  the  immune  system  and  good  vision
...
  The   conjunctiva   becomes  
dry,   thick   and   wrinkled
...
 

•

Found  naturally  in  many  foods  

 
Vitamin  C    
•

Intakes  found  to  be  above  RNI  for  all  ages  (208-­‐310%)  

•

Significantly  lower  in  Scotland  but  above  RNI  

•

Water   soluble   vitamin   (therefore   cant   be   stored   in   the   body;   in   contrast   to   fat   soluble  
vitamins  (vitamins  K,  A,  D,  and  E)  which  can  be  stored  in  the  liver  and  fatty  tissue)  

•

Vitamin   C  (ascorbic   acid)  is  a   cofactor  in  at  least  eight  enzymatic  reactions,  including  several  
collagen  synthesis  reactions  that,  when  dysfunctional,  cause  the  most  severe  symptoms  of  
scurvy  (condition  resulting  from  defective  collagen  production)
...
   

•

Scurvy   is   a   disease   resulting   from   a   deficiency   of   vitamin   C
...
 Spots  are  most  abundant  on  the  thighs  and  legs,  and  a  person  may  
look   pale,   feels   depressed,   and   be   partially   immobilized
...
 

•

Vitamin  C  is  found  in  high  concentrations  in  immune  cells,  and  is  consumed  quickly  during  
infections
...
 

•

The  richest  natural  sources  of  Vitamin  C  are  fruits  and  vegetables  
 
 

  
Vitamin  D    
•

Breastfed   infants   of   all   age   groups   had   a   mean   intake   below   the   RNI   ranging   from   37%   to  
54%    

•

Non-­‐breastfed  infants  aged  12  to  18  months  had  mean  intakes  of  3
...
 In  humans,  the  most  important  compounds  in  this  group  are  vitamin  
D3   (also   known   as   cholecalciferol)   and   vitamin   D2   (ergocalciferol)
...
     

•

The   body   can   also   synthesize   vitamin   D   (specifically   cholecalciferol)   in   the   skin,   from  
cholesterol,  when  sun  exposure  is  adequate  

•

Deficiency   can   cause   osteomalacia   and   Rickets   –   bone   deformity’s,   short   stature,   bossing,  
proximal  myopathy,  pain,  raised  ALP  
 

Vitamin  supplements  
•

Recommended   that   all   children   from   aged   6   months   should   take   vitamin   A,   C   &   D  
supplements  

•

Proportion  of  children  taking  supplements  ranged  between  5%  &  10%    

•

Breastfeeding  mothers  should  take  vitamin  D  supplements  of  10  µg  per  day  

•

46%  of  breastfeeding  mothers  took  a  supplement    

•

Vit  D  recommended  in  all  children  from  6  months  to  5  years  

 
 
UK  DoH  Physical  Activity  Guidelines  (under  5s)  
Infants  not  yet  walking  
•

Encourage  from  birth  

•

Floor  based  &  water-­‐based  activities  in  safe  environments  

•

Minimise  time  spent  sedentary  for  extended  periods  (except  sleeping)  

 
Children  capable  of  walking  

•

180  minutes  throughout  the  day  

•

Minimise  time  spent  sedentary  for  extended  periods  (except  sleeping)  

 
UK  DoH  Physical  Activity  Guidelines  (5-­‐18  years)  
•

≥  60  minutes/day  of  moderate  to  vigorous  intensity  physical  activity    

•

3  days/week  -­‐  vigorous  intensity  activities    

•

Minimal  time  being  sedentary  (sitting)    

 
Milk  feeding:    breastfeeding  
•

Exclusive   breastfeeding   is   recommended   for   the   first   six   months   of   an   infant’s   life  
(recommended  up  to  2  years  by  WHO)  

•

Weaning  from  6  months  

•

22%  of  infants  never  breastfed  

•

57%  who  have  been  breastfed  were  not  breastfed  past  3  months  of  age  

•

68%   were   reported   to   have   been   breastfed   in   Scotland   -­‐   significantly   less   than   UK   sample  
(78%)  

 
Milk  feeding:  infant  milks  
Regulation  
•

Infant  Formula  &  Follow-­‐on  Formula  (Scotland)  Regulations  2007  

•

WHO  Code  on  marketing  of  breast  milk  substitutes  1981  
 

Infant  formula  
•

Modified  cows  milk  

•

Whey  or  casein  based  formulae  

•

No  antimicrobial  or  bioactive  substances  from  breast  milk  

•

Whey  based  formula  recommended  for  first  year  

•

Change  of  brand  or  from  whey  to  casein  not  recommended  

  
 
Weaning  
•

Weanin   is   the   process   of   introducing   foods   with   an   increase   in   variety   of   texture,   flavour,  
aroma  &  appearance  

•

Transition  from  exclusive  breastfeeding  to  the  addition  of  family  foods  

•

Breast  milk  no  longer  enough  to  meet  nutritional  needs  

•

Start  at  about  6  months  of  age  

•

Some  may  need  to  start  earlier  but  not  before  4  months    

•

Breast  milk  should  be  the  main  type  of  milk  consumed  

•

Continue  breast  feeding  until  2  years  ideally  

•

Teeth  should  be  cleaned  gently  twice  a  day  as  soon  as  they  appear  using  1000ppm  fluoride  
toothpaste  

•

Don’t  start  cows  milk  until  12  months  

 
Breastfeeding  
WHO  recommends  exclusive  breast  feeding  for  first  six  months  of  life
...
   

•

Rotavirus:  2  and  3  months  

•

MenC  (meningococcal  or  Neisseria  meningitidis)  vaccine  is  given  at  three  and  four  months
...
 

•

Every  effort  should  be  made  to  ensure  that  all  children  are  immunised,  even  if  they  are  older  
than  the  recommended  age  range;  no  opportunity  to  immunise  should  be  missed
...
 

If  any  course  of  immunisation  is  interrupted,  it  should  be  resumed  and  completed  as  soon  as  
possible
...
 

  
 
Summary  
Children  should  have  received  these  vaccines  by  these  ages:  
By  four  months:    
•

Three  doses  of  DTaP/IPV/Hib  (dipertheria,  pertussis,  tetanus,  polio  and  HIB)  

•

Two   doses   of   PCV   (pneumococcal)   given   at   2   and   4   months,   and   MenC   (meningococcal),  
given  at  3  and  4  months,  

•

Rotavirus:  2  and  3  months  

 
By  13  months:    
•

A  booster  dose  of  Hib/MenC  and  PCV    -­‐  all  the  ones  that  can  cause  meningitis  

•

The  first  dose  of  MMR
...
g
...
 
 

Before  leaving  school  
•

DPT  –  but  here  P  is  for  polio  and  not  pertussis  

•

Three  doses  of  HPV  vaccine  

•

Men  C  booster  

 
Summary  

  
 
Adult  immunisation  programme  
•

•

Annual  influenza  vaccination  should  also  be  offered  –  IF  AT  RISK  

•

Selective  vaccines  should  also  be  considered  for  young  adults  unprotected  against  diseases  
including  measles,  mumps,  rubella  and  meningococcal  C
...
 Individuals  who  have  not  completed  the  five  doses  should  have  their  remaining  
doses   at   the   appropriate   interval
...
 A  full  course  of  diphtheria,  tetanus  and  polio  should  
be  offered  in  line  with  advice  contained  in  the  relevant  chapters
...
  These   vaccinations   include   Hib,   MenC,  
influenza,   pneumococcal   and   hepatitis   B
...
 



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