Abnormal Development/Autism

Question 1

A significant delay in two or more development domains, such as speech, motor, social, etc.; common in Fragile X and Down Syndrome and in circumstances of pre/perinatal injury; usually reserved ONLY for children <5 years old

Answer 1

Global Developmental Delay (“global” in terms of involving multiple domains, most notably motor and speech)

Question 2

What does “global” in Global Developmental Delay mean?

Answer 2

“global” in terms of involving multiple domains, most notably motor and speech

Question 3

Global Developmental Delay is commonly seen in what scenarios/disorders

Answer 3

Fragile X
Down Syndrome
Pre/perinatal injury (hypoxia, fetal alcohol, infection, encephalopathy, etc.)
Congenital Hypothyroidism
PKU
Lead poisoning

Question 4

Most common form of INHERITED intellectual disability; usually only in males (X-linked dominant); due to repeats in FMR1 gene; typically have a facial abnormalities (long face, large ears, prominent jaw) and enlarged testes

Answer 4

Fragile X Syndrome

Question 5

Young boys with Fragile X Syndrome will have enlarged testes (True or False)

Answer 5

False, typically won’t appear until puberty

Question 6

Gene involved with Fragile X Syndrome

Answer 6

FMR1 gene (CGG repeats specifically)

Question 7

Physical appearance of those with Fragile X Syndrome

Answer 7

Facial abnormalities (Long face, large ears, prominent jaw)
Enlarged testes

Question 8

Most common GENETIC cause of intellectual disability; trisomy 21 (maternal non-disjunction due to increased age); wide range from mild to moderate to a few severe; inc. risk for respiratory infections, heart defects, cervical instability, etc.; short stature, short neck, flat facial features, enlarged tongue, single transverse palmar crease

Answer 8

Down Syndrome

Question 9

Intellectual disability due to aplasia of the thyroid gland; if untreated, results in short stature, enlarged tongue, umbilical hernia and coarse facial features; can be treated early if detected

Answer 9

Congenital Hypothyroidism

Question 10

Intellectual disability due to mutation in Phenylalanine Hydroxylase enzyme; if untreated, results in musty odor, lighter skin, eczema, seizures and psychiatric disorders; if treated with phenylalanine-restricted diet, normal development

Answer 10

Phenylketonuria

Question 11

Enzyme mutated in Phenylketonuria

Answer 11

Phenylalanine Hydroxylase (PAH)

Question 12

Signs/Symptoms of Phenylketonuria

Answer 12

Musty odor
Lighter skin
Eczema
Seizures
Psychiatric disorders

Question 13

Intellectual disability due to maternal intake of alcohol during pregnancy; inc. risk for heart defects, psychiatric disorders and addiction; have a small upper lip, loss of philtrum (indent between nose and lip) and a short nose

Answer 13

Fetal Alcohol Syndrome

Question 14

Physical characteristics of Fetal Alcohol Syndrome children

Answer 14

Small upper lip
Loss of philtrum (indent between nose and lip)
Short nose

Question 15

Acronym for the transplacental infections

Answer 15

TORCHS:
TOxoplasmosis
Rubella
Cytomegalovirus
Herpes/HIV
Syphilis

Question 16

Signs/Symptoms of Intrauterine Infections (TORCHS)

Answer 16

Rash
Hepatosplenomegaly
Microcephaly (small head)
Hearing/eye problems
Mental retardation
Brain CALCIFICATIONS

Question 17

Why might TORCHS infections result in microcephaly?

Answer 17

Cerebral infection is thought to impede the differentiation of neural cells

Question 18

When a child who has been achieving milestones begins to lose them, like previously attained ability to walk or speak; HUGE red flag

Answer 18

Developmental Regression

Question 19

Key diagnostic tests for those with Developmental Regression (3 total)

Answer 19

MRI (white vs. gray matter diseases)
EEG (seizure activity)
Blood tests (Genetic and Metabolic)

Question 20

Four highest yield Developmental Regressions for Step 1

Answer 20

Rett’s Syndrome
Tay-Sach’s
Neiman-Pick
Hurler’s Syndrome

Question 21

Type of Developmental Regression; affects girls EXCLUSIVELY; caused by mutation in MECP2 gene; characterized by seizures, repetitive hand wringing and growth failure

Answer 21

Rett’s Syndrome

Question 22

Mutation in Rett’s Syndrome

Answer 22

MECP2 gene

Question 23

Lysosomal storage disease that causes Developmental Regression; GM2 gangliosidosis or Hexosaminidase A deficiency; high prevalence in Ashkenazi Jews; CHERRY-RED SPOTS in the retina; decline in ability to death (very sad)

Answer 23

Tay-Sach’s Disease

Question 24

Lysosomal storage disease that causes Developmental Regression; hepatosplenomegaly and decline in ability, hearing and vision to death (very sad)

Answer 24

Neiman-Pick

Question 25

(Tay-Sach’s/Neiman-Pick) is a lysosomal storage disease associated developmental regression and hepatosplenomegaly

Answer 25

Neiman-Pick

Question 26

Common physical exam finding for Tay-Sach’s disease and Neiman-Pick

Answer 26

Cherry-Red spots in retina

Question 27

Lysosomal disorder due to a deficiency in the enzyme a-L-iduronidase; causes buildup of mucopolysaccharides in liver, spleen, heart, lungs and bones; facial gargoylism, hepatosplenomegaly, valvular heart disease and skeletal deformities; death usually in first 2 decades of life BUT can be treated with bone marrow transplant

Answer 27

Hurler’s Syndrome

HurLer–> a-L-iduronidase

Question 28

Signs/Symptoms of Hurler’s Syndrome (remember where mucopolysaccharides are usually at)

Answer 28

Intellectual disability
Facial gargoylism
Hepatosplenomegaly
Valvular heart disease
Skeletal deformities

Question 29

enzyme deficient in Hurler’s Syndrome

Answer 29

a-L-iduronidase

Question 30

Steps to determine if a developmental abnormality is present

Answer 30

1) Normal development to age?
2) Motor and/or speech?
3) Gradual or Regressive? (GDD or DR)

Question 31

Mental condition since childhood characterized by difficulty in communicating and forming relationships; often with restricted, repetitive patterns of behavior, fixated interests and sensory differences

Answer 31

Autism Spectrum Disorder

Question 32

Screening/Diagnosis of Autism can be facilitated by head circumference, with autistic children typically having a (small/large) head

Answer 32

Large