Snapshot A 4-year-old girl presents to your office with repetitive wringing of her hands. Upon interviewing this patient you notice her verbal skills are limited and she has a vocabulary of roughly 100 words. She also does not participate in group play with other children. In addition, she is currently struggling in school and is unable to participate in athletics during physical education. Rett Syndrome Definition normal development to age 6 months loss of function starting between 1-4 years marked regression characterized of multiple areas of functioning loss of intellectual capacity loss of verbal abilities loss of motor skills stereotyped hang-wringing Rachel with Rett's is wringing her wrists ataxia Epidemiology X-linked disorder seen only in girls disease in males in incompatible with life males only have 1 copy of X chromosome
QUESTIONS 1 of 2 1 2 Previous Next (M1.PY.17.4699) A 4-year-old girl is seen by her pediatrician for developmental delay. One year prior, the patient was able to ride a tricycle, stack 3 blocks, and speak in short sentences. Now, she is unable to feed herself and has recently started to point to objects she wants rather than asking. Physical exam reveals a well nourished child sitting in a stroller wringing her hands. Vital signs are normal. The patient's mother reports that her 7-year-old son is doing well, and that they have no family history of mental retardation or other cognitive disorders. What is the most likely diagnosis? QID: 108377 Type & Select Correct Answer 1 Angelman syndrome 7% (7/104) 2 Rett syndrome 76% (79/104) 3 Beckwith–Wiedemann syndrome 6% (6/104) 4 Prader-Willi syndrome 5% (5/104) 5 McCune-Albright syndrome 4% (4/104) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK
All Videos (1) Login to View Community Videos Login to View Community Videos Hand wringing in Rett's Keshav Mudgal Psychiatry - Other Pervasive Developmental Disorders E 11/11/2015 51 views 0.0 (0)