Rett Interactive Case Challenge : Pre-test

1.

When starting your patient on trofinetide, which of the following is recommended?

A. Starting ondansetron to prevent nausea
B. Discontinuing all laxatives (prescription and over the counter)
C. Discontinuing all antiepileptic medications
D. Obtaining a baseline electroencephalogram to evaluate for epileptiform activity

2.

The parents of a 4-year-old girl with concerns for developmental regression come to your clinic. Her parents report that she was developing typically when she lost all words at approximately 18 months of age. She remains nonverbal but has developed an intense eye gaze that she uses to make choices. She has nearly constant hand stereotypies but is able reach for items, hold toys, and transfer objects, and she uses a pincer grasp to bring food to her mouth. She can hold a cup and turn pages in a book. Parents cannot recall a loss in acquired hand skills. On examination, the patient is observed frequently holding her breath. Her abdomen is distended because of air swallowing. She frequently grinds her teeth. She has near constant hand wringing, but she is able to reach for a toy when presented to her and take it from the examiner. Gait is normal for her age. She is wearing 2 pairs of socks because her feet are “always cold.” Parents report that she has never been a great sleeper. They give her melatonin to help her fall asleep, but she wakes up throughout the night, sometimes staying awake for hours. She has frequent spells of laughter. Parents think her response to pain seems delayed.

Based on history and examination, what is this patient’s diagnosis?

A. Childhood disintegrative disorder
B. Classic/typical Rett syndrome (RTT)
C. Variant/atypical RTT
D. Autism spectrum disorder

3.

Which of these patients would NOT be diagnosed with RTT?

A. A 4-year-old boy with period of developmental regression followed by stabilization, loss of acquired spoken language, loss of purposeful hand skills, dyspraxic gait, and stereotypic hand movements
B. A 12-year-old girl with a history of language regression, abnormal gait, abnormal stereotypic hand movements, epilepsy, breathing abnormalities, scoliosis, low tone, intense eye gaze, peripheral vasomotor disturbances, and normal MECP2 sequence analysis
C. A 6-year-old girl with epilepsy and global developmental delay since birth without evidence of regression
D. A 67-year old woman with a history of developmental regression, loss of acquired spoken language and loss of purposeful hand skills as a young child. She is nonambulatory and has experienced progressive limb rigidity with bradykinesia resembling parkinsonism. When younger, she had constant stereotypic hand movements, but these have become much less prominent with her motor decline. She has never had MECP2 analysis

4.

Which of these patients would NOT be appropriate for treatment with trofinetide?

A. A 3-year-old girl with variant/atypical RTT
B. A 14-month-old girl with global developmental delay and a pathogenic change in the MECP2 gene found on whole exome sequencing
C. A 48-year-old woman with classic/typical RTT by clinical criteria who has not had MECP2 testing
D. A 5-year-old boy with classic/typical RTT

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Rett Syndrome Interactive Case Challenge: Recognizing Presentation of a Heterogeneous Disease

Carrie Black Buchanan, MD

Pretest

Please answer the questions below.

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4.