Smith magenis - Study guides, Class notes & Summaries

Question: What are some conditions that can have associated behavioral features? - Answer: Neurodevelopental: Fragile X syndrome Neurodegenerative: Huntington's disease, Frontotemporal dementia Chromosomal abnormalities: 22q11.2 microdeletion, Prader willi syndrome, Smith-magenis syndrome Metabolic: Neimann-Pick Type C, Wilson's disease Question: Generally, how heritable are psychiatric illnesses? a) 20% b) 25% c) 50% d) 80% - Answer: d) 80% Surprisingly high!!! Question: Why is it...

While working in a private speech/language clinic, you become aware that a speech/language pathologist working in the clinic with you altered test scores on one of the children evaluated at the clinic. This was done so that parents would enroll their child in the clinic's services. According to ASHA, you are bound to: Inform the ASHA Board of Ethics. There is a point in a child's life when, even though development has been monitored, a child will have a speech/language screening. When ...

Question: What are some conditions that can have associated behavioral features? - Answer: Neurodevelopental: Fragile X syndrome Neurodegenerative: Huntington's disease, Frontotemporal dementia Chromosomal abnormalities: 22q11.2 microdeletion, Prader willi syndrome, Smith-magenis syndrome Metabolic: Neimann-Pick Type C, Wilson's disease Question: Generally, how heritable are psychiatric illnesses? a) 20% b) 25% c) 50% d) 80% - Answer: d) 80% Surprisingly high!!! Question: Why is it...

Generic Boards Review summary study guide rated 5 stars (rcommended to getting straight As) Osteogenesis imperfecta - Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type ...

Genetic Counseling Boards Review Questions and Answers (summer 2023/24). - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum ...

Neurofibromatosis - Answer Cafe-au-lait spots, seizures, large head autosomal dominant Pierre Robin Sequence - Answer Mandibular hypoplasia, glossoptosis, cleft soft palate - w/ FAS or Edwards Smith Magenis - Answer Broad, square face w/ short stature, self injurious behavior. Deltion on Chr. 17 Prader Willi - Answer Hypotonia, hypogonadism, hyperphagia, skin picking, agression, deletion on paternal Chr. 15 Angelman - Answer seizures, strabismus, sociable w/ episodic inappropriate laught...

ABFM ITE 2020 EXAM - QUESTIONS & ANSWERS

What is the standard measurement of obesity/overweight in children >2 yo? - BMI What percentile is overweight? What percentile is obese? - 85-95th >95 What is the definition of severe obesity in children - Not defined True or False: Fat cells increase in number when caloric intake is increased and can decrease in number during weight reduction - False (Can NOT decrease # of fat cells only decrease size) Is parental obesity or child's weight a stronger predictor of obesity? -...

ABFM ITE EXAM WITH 100% COREACT ANSWERS { GRADED+} Neurofibromatosis - Cafe-au-lait spots, seizures, large head autosomal dominant Pierre Robin Sequence - Mandibular hypoplasia, glossoptosis, cleft soft palate - w/ FAS or Edwards Smith Magenis - Broad, square face w/ short stature, self injurious behavior. Deltion on Chr. 17 Prader Willi - Hypotonia, hypogonadism, hyperphagia, skin picking, agression, deletion on paternal Chr. 15

A client comes to your clinic complaining that he is having difficulty with his hearing. He states that he can understand men's voices better than women's voices, has difficulty hearing alarms and cell phones. Discrimination testing indicates that he has difficulty differentiating fricatives, sibilants and plosives. What would you expect his hearing profile to look like? A. Adequate hearing in the lower frequencies with reduced hearing in the higher frequencies. B. Normal hearing but poor ...