Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers’ Sleep Quality and Daytime Functioning

Bro, Della; O’Hara, Ruth; Primeau, Michelle; Hanson‐Kahn, Andrea; Hallmayer, Joachim; Bernstein, Jonathan A.

doi:10.1093/sleep/zsw062

Cited by 22 publications

(45 citation statements)

References 23 publications

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“…Recent studies suggest that sleep problems may be present in a substantial number of PMS patients and may be an important factor for caregivers' well-being (Bro et al, 2017). We obtained genetic and sleep questionnaire data from the Phelan-McDermid Syndrome International Registry (PMSIR) to estimate the frequency and age of onset of sleep problems in PMS individuals carrying a SHANK3 deletion.…”

Section: Resultsmentioning

confidence: 99%

“…Individuals with PMS have high rates of intellectual disability, difficulties in communication and motor function, and approximately 84% fit the core diagnostic criteria for ASD (Soorya et al, 2013). There is also a high rate of sleep problems in PMS (Bro et al, 2017). Mice with mutations in Shank3 recapitulate multiple features of both ASD and PMS (Bozdagi et al, 2010; Dhamne et al, 2017; Jaramillo et al, 2017; Jaramillo et al, 2016; Kouser et al, 2013; Peça et al, 2011; Speed et al, 2015), including cognitive impairment, deficits in social behavior, and impaired motor coordination.…”

Section: Introductionmentioning

confidence: 99%

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Shank3 modulates sleep and expression of circadian transcription factors

Ingiosi

Schoch

Wintler

et al. 2019

eLife

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Autism Spectrum Disorder (ASD) is the most prevalent neurodevelopmental disorder in the United States and often co-presents with sleep problems. Sleep problems in ASD predict the severity of ASD core diagnostic symptoms and have a considerable impact on the quality of life of caregivers. Little is known, however, about the underlying molecular mechanisms of sleep problems in ASD. We investigated the role of Shank3, a high confidence ASD gene candidate, in sleep architecture and regulation. We show that mice lacking exon 21 of Shank3 have problems falling asleep even when sleepy. Using RNA-seq we show that sleep deprivation increases the differences in prefrontal cortex gene expression between mutants and wild types, downregulating circadian transcription factors Per3, Bhlhe41, Hlf, Tef, and Nr1d1. Shank3 mutants also have trouble regulating wheel-running activity in constant darkness. Overall, our study shows that Shank3 is an important modulator of sleep and clock gene expression.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Shank3 modulates sleep and expression of circadian transcription factors

Ingiosi

Schoch

Wintler

et al. 2019

eLife

View full text Add to dashboard Cite

show abstract

“…Recent studies suggest that sleep problems may be present in a substantial number of PMS patients and may be an important factor for caregiver's well-being (Bro et al, 2017). We obtained genetic and sleep questionnaire data from the Phelan McDermid Foundation International Registry (PMSIR) to estimate the frequency and age of onset of sleep problems in PMS individuals carrying a Shank3 deletion.…”

Section: Phelan Mcdermid Syndrome Patients Have Problems Falling and mentioning

confidence: 99%

Shank3 Modulates Sleep and Expression of Circadian Transcription Factors

Ingiosi

Wintler

Schoch

et al. 2018

Preprint

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Autism Spectrum Disorder (ASD) is the most prevalent neurodevelopmental disorder in the United States and often co-presents with sleep problems. Sleep problems in ASD predict the severity of ASD core diagnostic symptoms and have a considerable impact on the quality of life of caregivers. Little is known, however, about the underlying molecular mechanisms. We investigated the role of Shank3, a high confidence ASD gene candidate, in sleep architecture and regulation. We show that mice lacking exon 21 of Shank3 have problems falling asleep even when sleepy. Using RNA-seq we show that sleep deprivation increases the differences in gene expression between mutants and wild types, downregulating circadian transcription factors Per3, Dec2, Hlf, Tef, and Reverbα. Shank3 mutants also have trouble regulating wheel-running activity in constant darkness. Overall our study shows that Shank3 is an important modulator of sleep and clock gene expression.

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“…PMS has been under continuous investigation since its description [20,21] that benefited, in many cases, by the strong cooperation of the PMS Foundation. Most of the patients were recruited in the USA [7,12,[20][21][22][23] and Western Europe [9,[24][25][26][27][28][29]; there are also reports from Korea [30] and China [31]. PMS seems to be underdiagnosed in many parts of the world.…”

Section: Resultsmentioning

confidence: 99%

First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome

Budişteanu¹,

Tutulan-Cuniţă²,

Focșa³

et al. 2020

Chromosomal Abnormalities

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Phelan-McDermid (PMS) or 22q13 deletion syndrome (OMIM 606232) is a rare genetic disorder with highly variable clinical presentation. The phenotype includes generalized neonatal hypotonia, developmental delay with intellectual disability and delayed speech, mild dysmorphic features, and autistic behavior. The genetic defects of PMS consist of 22q13.3 deletions or chromosomal structural rearrangements involving SHANK3 gene; the loss of function mutations of SHANK3 gene was reported in a minority of cases. The 22q13.3 deletions vary in size, from 0.2 to over 9 Mb, and, although larger deletions are generally associated with more severe phenotypes, the genotype-phenotype correlations are not clear-cut for all patients. SHANK3 is considered the main candidate gene for the neurologic features of PMS. PMS is a rare disorder, often underdiagnosed. There are no established clinical diagnostic criteria for PMS. The genetic tests typically used are chromosomal microarray and multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) for copy number analysis of SHANK3 gene; next-generation sequencing (NGS) or Sanger sequencing is used for pathogenic mutation screening of SHANK3. In this chapter, we report three cases with PMS and summarize the clinical and genetic diagnostic approaches of this condition, highlighting the role of chromosomal microarray technology in the identification of rare, but significantly impacting patient's life, DNA copy number abnormalities.

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Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers’ Sleep Quality and Daytime Functioning

Cited by 22 publications

References 23 publications

Shank3 modulates sleep and expression of circadian transcription factors

Shank3 modulates sleep and expression of circadian transcription factors

Shank3 Modulates Sleep and Expression of Circadian Transcription Factors

First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome

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