Abnormal Development/Autism Flashcards
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
Global Developmental Delay (“global” in terms of involving multiple domains, most notably motor and speech)
What does “global” in Global Developmental Delay mean?
“global” in terms of involving multiple domains, most notably motor and speech
Global Developmental Delay is commonly seen in what scenarios/disorders
Fragile X Down Syndrome Pre/perinatal injury (hypoxia, fetal alcohol, infection, encephalopathy, etc.) Congenital Hypothyroidism PKU Lead poisoning
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
Fragile X Syndrome
Young boys with Fragile X Syndrome will have enlarged testes (True or False)
False, typically won’t appear until puberty
Gene involved with Fragile X Syndrome
FMR1 gene (CGG repeats specifically)
Physical appearance of those with Fragile X Syndrome
Facial abnormalities (Long face, large ears, prominent jaw) Enlarged testes
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
Down Syndrome
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
Congenital Hypothyroidism
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
Phenylketonuria
Enzyme mutated in Phenylketonuria
Phenylalanine Hydroxylase (PAH)
Signs/Symptoms of Phenylketonuria
Musty odor Lighter skin Eczema Seizures Psychiatric disorders
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
Fetal Alcohol Syndrome
Physical characteristics of Fetal Alcohol Syndrome children
Small upper lip
Loss of philtrum (indent between nose and lip)
Short nose
Acronym for the transplacental infections
TORCHS: TOxoplasmosis Rubella Cytomegalovirus Herpes/HIV Syphilis
Signs/Symptoms of Intrauterine Infections (TORCHS)
Rash Hepatosplenomegaly Microcephaly (small head) Hearing/eye problems Mental retardation Brain CALCIFICATIONS
Why might TORCHS infections result in microcephaly?
Cerebral infection is thought to impede the differentiation of neural cells
When a child who has been achieving milestones begins to lose them, like previously attained ability to walk or speak; HUGE red flag
Developmental Regression
Key diagnostic tests for those with Developmental Regression (3 total)
MRI (white vs. gray matter diseases)
EEG (seizure activity)
Blood tests (Genetic and Metabolic)
Four highest yield Developmental Regressions for Step 1
Rett’s Syndrome
Tay-Sach’s
Neiman-Pick
Hurler’s Syndrome
Type of Developmental Regression; affects girls EXCLUSIVELY; caused by mutation in MECP2 gene; characterized by seizures, repetitive hand wringing and growth failure
Rett’s Syndrome
Mutation in Rett’s Syndrome
MECP2 gene
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)
Tay-Sach’s Disease
Lysosomal storage disease that causes Developmental Regression; hepatosplenomegaly and decline in ability, hearing and vision to death (very sad)
Neiman-Pick
(Tay-Sach’s/Neiman-Pick) is a lysosomal storage disease associated developmental regression and hepatosplenomegaly
Neiman-Pick
Common physical exam finding for Tay-Sach’s disease and Neiman-Pick
Cherry-Red spots in retina
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
Hurler’s Syndrome
HurLer–> a-L-iduronidase
Signs/Symptoms of Hurler’s Syndrome (remember where mucopolysaccharides are usually at)
Intellectual disability Facial gargoylism Hepatosplenomegaly Valvular heart disease Skeletal deformities
enzyme deficient in Hurler’s Syndrome
a-L-iduronidase
Steps to determine if a developmental abnormality is present
1) Normal development to age?
2) Motor and/or speech?
3) Gradual or Regressive? (GDD or DR)
Mental condition since childhood characterized by difficulty in communicating and forming relationships; often with restricted, repetitive patterns of behavior, fixated interests and sensory differences
Autism Spectrum Disorder
Screening/Diagnosis of Autism can be facilitated by head circumference, with autistic children typically having a (small/large) head
Large
