Literature DB >> 32845423

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.

Anusha Gandhi1,2, Dihong Zhou3,4, Joseph Alaimo3,4, Edwin Chon3, Michael D Fountain3,5, Sarah H Elsea6.   

Abstract

Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals.

Entities:  

Keywords:  Autism spectrum disorder; MBD5-associated neurodevelopmental disorder; Neurodevelopmental disorder; Pitt–Hopkins syndrome; Sleep disturbance; Smith–Magenis syndrome

Year:  2021        PMID: 32845423     DOI: 10.1007/s10803-020-04666-2

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  46 in total

1.  Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

Authors:  H De Leersnyder; M C De Blois; B Claustrat; S Romana; U Albrecht; J C Von Kleist-Retzow; B Delobel; G Viot; S Lyonnet; M Vekemans; A Munnich
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

2.  Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin.

Authors:  Rosario Carpizo; Angeles Martínez; Dolores Mediavilla; Mónica González; Araceli Abad; Emilio J Sánchez-Barceló
Journal:  J Pediatr       Date:  2006-09       Impact factor: 4.406

3.  Heritability of sleep electroencephalogram.

Authors:  Urte Ambrosius; Sonja Lietzenmaier; Renate Wehrle; Adam Wichniak; Stefanie Kalus; Juliane Winkelmann; Thomas Bettecken; Florian Holsboer; Alexander Yassouridis; Elisabeth Friess
Journal:  Biol Psychiatry       Date:  2008-04-11       Impact factor: 13.382

4.  Autism screening questionnaire: diagnostic validity.

Authors:  S K Berument; M Rutter; C Lord; A Pickles; A Bailey
Journal:  Br J Psychiatry       Date:  1999-11       Impact factor: 9.319

5.  Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Authors:  Jeanne Amiel; Marlene Rio; Loic de Pontual; Richard Redon; Valerie Malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas Lyonnet; Arnold Munnich; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2007-03-23       Impact factor: 11.025

Review 6.  Sleep in children with autistic spectrum disorder.

Authors:  Flavia Cortesi; Flavia Giannotti; Anna Ivanenko; Kyle Johnson
Journal:  Sleep Med       Date:  2010-07-04       Impact factor: 3.492

Review 7.  Sleep in children with neurodevelopmental disabilities.

Authors:  Marco Angriman; Barbara Caravale; Luana Novelli; Raffaele Ferri; Oliviero Bruni
Journal:  Neuropediatrics       Date:  2015-04-28       Impact factor: 1.947

8.  Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Authors:  Céline Bonnet; Asma Ali Khan; Emmanuel Bresso; Charlène Vigouroux; Mylène Béri; Sarah Lejczak; Bénédicte Deemer; Joris Andrieux; Christophe Philippe; Anne Moncla; Irina Giurgea; Marie-Dominique Devignes; Bruno Leheup; Philippe Jonveaux
Journal:  Eur J Hum Genet       Date:  2013-02-20       Impact factor: 4.246

Review 9.  The genetic and molecular regulation of sleep: from fruit flies to humans.

Authors:  Chiara Cirelli
Journal:  Nat Rev Neurosci       Date:  2009-08       Impact factor: 34.870

Review 10.  Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.

Authors:  Allison Beck Blackmer; James A Feinstein
Journal:  Pharmacotherapy       Date:  2016-01       Impact factor: 4.705

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