Angelman syndrome - Study guides, Revision notes & Summaries

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...

Angelman Syndrome causes (expression and % of total) correct answers **paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features correct answers methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and...

HOSA Pathophysiology Question and answer rated A+ 2024 HOSA Pathophysiology Question and answer rated A+ 2023 Angelman syndrome - correct answer Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - correct answer autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st de...

SSS/BETS (small sharp waves / benign epileptiform transients of sleep) Low voltage, short duration, diphasic spikes with a steep descending limb. Usually seen in drowsiness and light sleep. SREDA (subclinical rhythmic electrographic discharges of adults) Sharply contoured theta activity in the posterior head region. A normal variant in older adults during wakefullness. 14 and 6 positive spikes 1-2 seconds of sharply contoured discharges in the posterior head regions in light sle...

Angelman syndrome Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease protein gluten is not properly broken down cystic fibrosis Hereditary condition that causes the exocrine gland...

HOSA Pathophysiology Questions and Answers With Complete Solutions (514 VERIFIED Q&A)

AAT deficiency - Answer Alpha1 antitrypsin deficiency--AAT binds to neutrophil elastase to prevent inflammatory damage to lung tissue. Mutant AAT accumulates in liver. Autosomal recessive disorder. Accelerates emphysema in smokers/lung irritants. Prader-Willi Syndrome - Answer A paternal chromosome 15 deletion syndrome (maternal copy imprinted): short, fat, small hands/feet, mild intellectual disability. Angelman Syndrome - Answer A maternal chromosome 15 deletion syndrome (paternal copy i...

Absent seizures duration, presentation clinically and diagnostically, and tx correct answer: • Present 4-10 yo • Brief (<20 seconds) impairment of consciousness (staring spells) • Preserved muscle tone • Unresponsive to tactile/verbal stimulation • Simple automatisms frequently present • Provoked by hyperventilation • Dx: EEG: 3-Hz spike-wave discharges • Comorbidities: ADHD, anxiety • Rx: Ethosuximide Alport syndrome clinical presentation correct answer: • ...

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HOSA Pathophysiology Study Guide with complete solutions Angelman syndrome - answerDeletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - answerautosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - answerprotein gluten is not properly broken down cystic f...