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Whereas <jats:italic>RAI1<\/jats:italic> triplosensitivity causes PTLS, haploinsufficiency of <jats:italic>RAI1<\/jats:italic> due to 17p11.2 microdeletion causes the clinically distinct Smith\u2013Magenis 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, &lt;10 years, with PTLS have statistically significant abnormalities in five components of sleep despite lack of recognition of substantial sleep disturbances by parents. Our data support the contention that patients with PTLS should undergo clinical evaluations for sleep disordered breathing and periodic limb movement disorder, both of which are treatable conditions.<\/jats:p>","DOI":"10.1002\/ajmg.a.61307","type":"journal-article","created":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T04:19:01Z","timestamp":1564028341000},"page":"1982-1986","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Objective measures of sleep disturbances in children with Potocki\u2013Lupski syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9744-7161","authenticated-orcid":false,"given":"Kevin","family":"Kaplan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"},{"name":"Children's Sleep Center Baylor College of Medicine  Houston Texas"},{"name":"Department of Pulmonary Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"McCool","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital Baylor College of Medicine  Houston Texas"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Glaze","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"},{"name":"Children's Sleep Center Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital Baylor College of Medicine  Houston Texas"},{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas"},{"name":"Department of Neurology Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Baylor College of Medicine  Houston Texas"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,24]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"International classification of sleep disorders","author":"American Academy of Sleep Medicine","year":"2014"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/22.5.667"},{"key":"e_1_2_8_4_1","unstructured":"BerryR. 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