Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

TitleObjective measures of sleep disturbances in children with Potocki-Lupski syndrome.
Publication TypeJournal Article
Year of Publication2019
AuthorsKaplan, K, McCool, C, Lupski, JR, Glaze, D, Potocki, L
JournalAm J Med Genet A
Date Published2019 Oct
KeywordsAbnormalities, Multiple, Adolescent, Child, Chromosome Disorders, Chromosome Duplication, Female, Humans, Male, Sleep Wake Disorders, Surveys and Questionnaires

Potocki-Lupski syndrome (PTLS; MIM 610883) is a neurodevelopmental disorder caused by a microduplication, a 3.7 Mb copy number variant, mapping within chromosome 17p11.2, encompassing the dosage-sensitive RAI1 gene. Whereas RAI1 triplosensitivity causes PTLS, haploinsufficiency of RAI1 due to 17p11.2 microdeletion causes the clinically distinct Smith-Magenis syndrome (SMS; MIM 182290). Most individuals with SMS have an inversion of the melatonin cycle. Subjects with PTLS have mild sleep disturbances such as sleep apnea with no melatonin abnormalities described. Sleep patterns and potential disturbances in subjects with PTLS have not been objectively characterized. We delineated sleep characteristics in 23 subjects with PTLS who underwent a polysomnogram at Texas Children's Hospital. Eleven of these subjects (58%) completed the Child's Sleep Habits Questionnaire (CSHQ). Urinary melatonin was measured in one patient and published previously. While the circadian rhythm of melatonin in PTLS appears not to be disrupted, we identified significant differences in sleep efficiency, percentage of rapid eye movement sleep, oxygen nadir, obstructive apnea hypopnea index, and periodic limb movements between prepubertal subjects with PTLS and previously published normative data. Data from the CSHQ indicate that 64% (7/11) of parents do not identify a sleep disturbance in their children. Our data indicate that younger individuals,

Alternate JournalAm J Med Genet A
PubMed ID31342617
PubMed Central IDPMC6953247
Grant ListU54 HD083092 / HD / NICHD NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
K08 HD01149 / / National Institute of Child Health and Human Development / International

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