Rett syndrome Study guides, Class notes & Summaries

A 16-year off boy presents with a long head, large ears, and hyper extensible joints, is very shy, and starts rocking and flapping his hands when he is upset. Which of the following is your most likely diagnosis? A. Tourette disorder B. Autism C. Fragile X D. Rett disorder - Fragile X a 17 year old arrives at the emergency department with nonspecific complaints The patient's temperature is 100.8, pulse rate and blood pressure are elevated, and pupils are dilated with decreased reaction...

CPN Exam Questions & Answers 2024 monosomy - ANSWER-the loss of one chromosome from a pair; usually rare & fetus is usually non-viable trisomy - ANSWER-an addition to a pair of chromosomes; relatively common autosomal dominant inheritance - ANSWER-children of a heterozygous parent have a 50% chance of possessing the defective gene. children who don't inherit the defective gene will themselves have unaffected offspring. examples of autosomal dominant disorders (2) - ANSWER-marfan s...

What heart defects can be seen in Noonan syndrome? correct answers Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? correct answers Noonan syndrome What genes are associated with HHT? correct answers ACVRL1, ENG, SMAD4 What percentage of Tuberous Sclerosis is de novo? correct answers 2/3 What major systems are affected by Tube...

CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct CPN Exam Questions and Answers 100% Correct monosomy - ANSWER-the loss of one chromosome from a pair; usually rare & fetus is usually non-viable trisomy - ANSWER-an addition to a pair of chromosomes; relatively common autosomal dominant inheritance - ANSWER-children of a heterozygous parent have a 50% chance of possessing the defective gene. childr...

CBMT Study Guide | 239 Questions and Verified Answers| Already Passed. Pervasive Developmental Disorder - Answer- Group of conditions affects functionality (autism, Rett Syndrome, childhood disintegrative disorder, Asperger's disorder, other...) (diverse amount of medical conditions affecting mental or behavioral status...) PDD often used...describe disorders have no biological status of significant effect on social and educational levels of clients. Multiply Handicapped - Answer- An in...

Desired Results Developmental Profile (DRDP) - ANSWER -Observation tool for teachers to record individual progress toward the achievement of four desired results... *Socially & personally competent *Effective Learners *show physical & motor Competence *safe & healthy Desired results for Families (DRDP) - ANSWER *families support their child's learning and development *families achieve their own goals Skills streaming - ANSWER -A social skills training method introduced by Dr. Arnold...

CLTM Epilepsy disorders Angelman Syndrome SZ onset - correct answer 1-3 years Angelman Syndrome SZ type - correct answer all; myoclonic and absence most common Angelman Syndrome treatments - correct answer difficult to control with AEDs, ketogenic diet and VNS can be tried ADNFLE - correct answer Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ADNFLE sz onset - correct answer between 1-60 years, most often before 20 yrs ADNFLE sz type - correct answer frequent, brief, hypermot...

A 6 year old client is incredibly social, afraid of the sound of a vacuum, and is small for their age. What may be their diagnosis? A. Rett Syndrome B. Autism Spectrum Disorder C. Williams Syndrome D. Disintegrative Disorder - correct answer C. Williams Syndrome A client during music therapy brings up that they feel "odd" around a coworker. They share distinct examples of them feeling "odd" with lots of descriptive details. What type of thinking is this? A. Concrete Thinking B. Ab...

A 16-year off boy presents with a long head, large ears, and hyper extensible joints, is very shy, and starts rocking and flapping his hands when he is upset. Which of the following is your most likely diagnosis? A. Tourette disorder B. Autism C. Fragile X D. Rett disorder - Answer Fragile X a 17 year old arrives at the emergency department with nonspecific complaints The patient's temperature is 100.8, pulse rate and blood pressure are elevated, and pupils are dilated with decreased ...

monosomy - ANSWER-the loss of one chromosome from a pair; usually rare & fetus is usually non-viable trisomy - ANSWER-an addition to a pair of chromosomes; relatively common autosomal dominant inheritance - ANSWER-children of a heterozygous parent have a 50% chance of possessing the defective gene. children who don't inherit the defective gene will themselves have unaffected offspring. examples of autosomal dominant disorders (2) - ANSWER-marfan syndrome & neurofibromatosis autosoma...