Childhood/Development Flashcards
Rett Syndrome/Disorder
- normal development for first 5 months
- followed by decline in motor/social skills; loss of eye contact; slowed weight/height growth; hypotonia
- receptive/expressive communication and social skills remain at 1 yr
Symptoms re:
- head?
- hands?
- what gender?
Rett Syndrome
decelerated head growth; hand wringing
occurs almost exclusively in females
ODD versus Conduct Disorder
–violation of social norms?
ODD
–don’t violate social norms; mostly argue/annoy people, especially authority figures
Conduct Disorder --destruction of property --cruelty towards animals & people --deceitfulness/theft --serious violation of rules (reserved for pts younger than 18 years)
Dx of ADHD
- -6 symptoms of ?
- -6 symptoms of ?
- -How many settings?
- -Onset of some symptoms before age?
- -meals and TV?
ADHD
- -6 symptoms of inattention
- -6 symptoms of hyperactivity/impulsivity
- -2+ settings
- -Onset of some symptoms before age 7
- -can’t sit through meal/TV show
Normal development until age 2 then major loss of verbal, social skills with autistic like behavior.
Dx?
Childhood Disintegrative Disorder
X-linked defect affecting FMR1 gene. The 2nd most common cause of genetic MR (after Down). Findings: macro-orchidism, long face with a large jaw, large everted ears, autism, mitral valve prolapse. Trinucleotide repeat (CGG).
Dx?
Fragile X Syndrome
=eXtra-large testes, jaw, ears
Congenital microdeletion of short arm of chromosome 5 (46, XX or XY, 5p-). Findings: microcephaly, moderate to severe MR, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities.
Dx?
Cri-du-chat Syndrome
Seizures, strabismus, sociable with episodic laughter. Deletion on maternal Chr 15. Dx?
Hypotonia, hypogonadism, hyperphagia, skin picking, aggression. Deletion on paternal Chr 15. Dx?
Angelman Syndrome
- -seizures, strabismus, sociable with episodic laughter
- -del on maternal chr15
Prader-Willi Syndrome
- -MR, hypotonia, hypogonadism, hyperphagia, skin picking, aggression, almond-shaped eyes
- -del on paternal chr15
Microdeletion on long arm of chr 7. Distinctive “elfin” facies, MR, hypercalcemia (inc. sens. to vit D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems.
Williams Syndrome
ADHD-like symptoms, microcephaly, smooth philtrum.
Fetal Alcohol Syndrome
Aggressive behavior, “gargoylism,” airway obstruction, hepatosplenomegaly. NO corneal clouding. Deficiency of iduronate sulfatase. X-l-recessive. Mucopolysaccharidose.
Hunter’s Syndrome
Developmental delay, “gargoylism,” airway obstruction, corneal clouding,hepatosplenomegaly. Deficiency of alpha-L-iduronidase. Autosomal recessive. Mucopolysaccharidose.
Hurler’s Syndrome
Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells. Deficiency: sphinogomyelinase. Autosomal recessive.
Niemann-Pick
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, Lysosomes with onion skin, NO hepatosplenomegaly (vs. NiemannPick).
Deficiency: Hexosaminidase A. Autosomal Recessive.
Tay-Sachs
Social Developmental Milestones How many months? --social smile; recognizes parent --recognizes people as strangers --plays in company of others --parallel play --group play (sharing, taking turns) --plays cooperatively --plays competitive games
Social Developmental Milestones
2m--social smile; recognizes parent 6m--recognizes people as strangers 18m--plays in company of others 2y--parallel play 3y--group play (sharing, taking turns) 4y--plays cooperatively 5y--plays competitive games
MR: IQ less than or equal to 70 Mild MR: IQ 55-70 Moderate MR: IQ 40-55 Severe MR: IQ 25-40 Profound MR: IQ less than 25
Normal IQ?
MR: IQ less than or equal to 70 Mild MR: IQ 55-70 Moderate MR: IQ 40-55 Severe MR: IQ 25-40 Profound MR: IQ less than 25
Normal IQ is 90-110
