Developmental/Speech Delay Flashcards by Alana Meikle

what is the most common chromosomal condition

trisomy 21

also most common cause of mental retardation

1/800 live births

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what are the three types of down syndrome

trisomy 21 (94%)
robertsonian translocation (3.3%)
mosaicism (2.4%, milder phenotype)

robertsonian may be inherited

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what are the classic dysmorphic features of down syndrome

upslanted fissures
flat nasal bridge
short, small nose
protruding tongue and dental hypoplasia
Brushfield spots in eyes
epicanthic folds
overfold helix and small lowered ears
short neck with excess skin
brachycephaly
large posterior fontanelle

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what are the features classic of down syndrome in the extremities

hands–> single, transverse palmar crease (“simian crease”), broad fingers, clinodactyly, small 5th middle phalanx, brachydactyly

feet–> increased distance between first and second toes “sandal sign”

hypotonia

hyperreflexive ligaments

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what is the gold standard diagnosis for down syndrome–when do you order?

chromosomal karyotype

with prenatal diagnosis, can get via chorionic villus sampling (10-14 weeks) or amniocentesis (after 15 weeks)

if postnatal, get a karyotype if child displays 2 or more dysmorphic features

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what is NIPT

a new non invasive prenatal screening test (NIPT) which is a DNA based maternal blood test with a high positive predictive value

drawback is it is expensive and out of pocket

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what prenatal screening tests look for down syndrome

nuchal translucency

first trimester screen:
beta hcg
PAPP-A
U/S showing abscence of nasal bone

maternal serum screen:
inhibin-A
AFP
unconjugated estriol

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how is the following test affected in down syndrome:

nuchal translucency

U/S measure of fluid behind the neck

it is HIGH NT with trisomy 21

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how is the following test affected in down syndrome:

beta hcg

high

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how is the following test affected in down syndrome:

PAPP-A

low

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how is the following test affected in down syndrome:

inhibin-A

high

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how is the following test affected in down syndrome:

maternal serum AFP

low

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how is the following test affected in down syndrome:

unconjugated estriol

low

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red flags for down syndrome in the newborn

signs of obstruction–> delayed passage of mec, bilious vomiting

heart failure–> edema, datigue, FTT

leukemia–> fever, anorexia

spinal cord compression–> secondary to C1C2 instability

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what special immunization should be offered to the child with T21

RSV

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risk factors for down syndrome

maternal age (1/214 births at age 35, 1/19 at age 45)

previous pregnancy with chromosomal abnormality

abnormalities of prenatal screening

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what are some complications associated with down syndrome

ocular abnormalities
recurrent URTIs and AOM
50% cardiac abnormality (AVSD most common)
OSA
pulm HTN
GI tract abnormalities
nearly all males are sterile
atlantoaxial instability, may have dislocation 
hypothyroid
short stature
developmental delay
behavioural disorders
increased risk of leukemia

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when are developmental screening tests for those at risk of developmental delay routinely done

developmental surveillance should be done at every well child visit

screening tests at 9, 18, 24-30 months and as needed

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what are some developmental stage screening tools available

Parents Evaluation of Developmental Status (PEDS0

Ages and Stages Questionnaire (ASQ)

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define devleopmental delay

failure to reach developmental milestone at expected time

can be isolated, multiple domains or global

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what conditions might cause motor delay

cerebral palsy
muscular dystrophy
spini bifida
spinal muscular atrophy

what are tests for muscular dystrophy

positive Gower sign
high CK
PCR to detect absent dystrophin gene
muscle biopsy

what conditions might cause language delay

hearing impairment

autism

what conditions might cause cognitive delay

any intellectual disability

visual disturbance may result in apparent cognitive delays early on

what conditions might cause social delay

autism

define global developmental delay

a significant delay (more than 2 standard deviations below mean) in more than 2 developmental domains

what are some specific conditions that can cause global delay

fragile X down syndrome FASD

test for fragile X

PCR for excessive triplet repeats of FMR1

test for down syndrome

karyotype

test for FASD

diagnosis required 1. growth deficiency, 2. abnormal craniofacial features, 3. CNS dysfunction, 4. evidence of maternal drinking during pregnancy

what are some common pre/post natal factors that can result in developmental delay

``` fetal hypoxia FASD TORCH infection meningitis DM malnutrition prematurity ```

what are some common genetic conditions that can cause developmental delay

``` fragile X trisomy 21 prader willi rett syndrome chromosonal deletions and duplications ```

what are some common neurologic causes of developmental delay

tuberous sclerosis neurofibromatosis west syndrome

what are some common psychosocial causes of developmental delay

``` under stimulation low SES parental neglect family instability malnutrition ```

what are some other causes of developmental delay

``` inborn erros of metabolism congenital hypothyroid anemia lead poisoning idiopathic ```

what are the broad types of developmental delay

``` motor (gross and fine motor) speech social cognitive mixed ```

when assessing developmental delay should you adjust age for prematurity

yes (unlike w vaccines)

what should you ask on family history in developmental delay

``` deafness blindness developmental delay MR neurologic disorder psychiatric disorder malformations THREE GENERATION pedigree--> consanguinity, miscarriage, early childhood loss ```

``` developmental milestones in GM FM language cognition social ``` at age of 3 mo

``` GM-head control FM-palmar grasp language-cooing cognition-fix and follow social-social smile (6 weeks) ```

``` developmental milestones in GM FM language cognition social ``` at age of 6 months

``` Gm-sits and rolls FM-raking grasp, transfer lang-babbling cog-examines objects soc-stranger anxiety ```

``` developmental milestones in GM FM language cognition social ``` at age of 9 months

``` GM-pull to stand FM-radial-digital grasp lang-mama/dada, gestures cog-object permanence soc-separation anxiety ```

``` developmental milestones in GM FM language cognition social ``` at age of 1 year

``` GM-walking FM-pincer grasp lang-1st word, 1 step command cog-imitates soc-peek a boo, proto-imperative pointing ```

``` developmental milestones in GM FM language cognition social ``` at age of 18 mo

``` GM-runs, stairs FM-4 bock tower, undresses lang-10-25 words, points to body parts cog-functional play, symbolic play soc-parallel play, proto-declarative pointing ```

``` developmental milestones in GM FM language cognition social ``` at age of 2 years

GM-jumps, kicks ball FM-6 block tower, vertical line lang-50 words, 2 step command, 2 word phrase, 50% intelligible cog-matches objects, uses familiar objects soc-tests limits, "No!"

``` developmental milestones in GM FM language cognition social ``` at age of 3 years

``` GM-tricyle FM-draws circle and cross lang-200 words, 3 word phrases, 75% intelligible cog-draws person with 2-3 parts soc-cooperative play, empathy ```

what are first line investigations in developmental delay

audiology and vision assessments to rule out sensory abnormality

risk factors for hearing impairment

``` TORCH infections meningitis encephalitis genetic syndromes craniofacial abnormalities less than 1500 g in birth weight hyperbilirubinemia low apgars ```

etiology of speech delay

cognitive disability hearing impairment social deprivation mechanical problems like cleft palate, cranial nerve palsy pervasive developmental disorder including autism selective mutism Landau-Kleffner syndrome (acquired epileptic aphasia)

language delay screening tests

denver developmental screening test early language milestone scale

how to evaluate hearing loss

up to 6 months--auditory brainstem response 6months-3 years--behavioural audiometry older than 3 years--pure tone audiometry

how do you manage suspected language delay

refer to specialized hearing and speech centre counsel for any psychosocial factors ENT and dental referrals as needed psych consult in selective mutism