Learning Difficulties Flashcards
What are facial features of Downs?
Maxilla reduced more than mandible Underdeveloped nasal bridge Eyes close together Brushfield spots on Iris Low set eats High palate Protruding tongue
What congenital heart defects are seen in Downs?
VSD
PDA
Mitral valve defects
What congenital GI defect is seen in Downs/
Duodenal Atresia
What is seen in the hands in Downs?
Single palmar crease
Short broad hands
Webbed fingers
Incurved fingers
What endocrine issues are Downs prone to?
DM
Hypothyroid
What eye defects are found in Downs?
strabismus
myopia
What abnormal sexual development is there in Downs?
Delayed puberty in males
spermatogenesis problems
females- early menopause
What is the inheritance pattern and abnormality in Fragil X syndrome?
X linked dominant with CGG repeats on X chromosome
What are signs of Fragile X?
Large testes Big ears Hyperextensible fingers Flat feet Mitral valve prolapse Hernias Long narrow face Macrocephaly
What level of LD is seen in fragile X?
Variable
Mild to Severe
ADHD, autism, hand flapping and waving, mannerisms, poor peer relationships, delayed language develpment, echolalia
How long does it take to diagnose Tourettes?
1 year
What is tourettes treatment
Psychoeducation
