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Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
BackgroundThis study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort...
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Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
BackgroundSmith–Magenis syndrome (SMS) is a rare genetic syndrome associated with a unique profile of early morning waking and daytime sleepiness....
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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
BackgroundSmith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural...
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome
Smith-Magenis syndrome is a genetic disorder caused by a microdeletion involving the retinoic acid-induced 1 ( RAI1 ) gene that maps on the short arm...
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Recommendations for Assessing and Managing Sleep Problems in Children with Neurodevelopmental Conditions
Purpose of ReviewThis review draws upon the authors’ practical experience of assessing sleep in children with neurodevelopmental conditions alongside...
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Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
BackgroundPhenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual...
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A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
AbstractSyndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay,...
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Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support
Purpose of ReviewElevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review...
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Autonomic nervous system dysfunction in Prader–Willi syndrome
IntroductionPrader–Willi syndrome is a complex neurodevelopmental genetic disorder due to lack of paternal expression of critical imprinted genes in...
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Pharmacologic Approaches to Insomnia and Other Sleep Disorders in Children
Purpose of ReviewSleep disorders in childhood, particularly insomnia, are very common. These disorders are almost always best addressed by behavioral...
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Application of chromosome microarray analysis and karyoty** in diagnostic assessment of abnormal Down syndrome screening results
BackgroundDown syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural...
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Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile
BackgroundSleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across...
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Declined plasma microfibrillar-associated protein 4 levels in acute coronary syndrome
BackgroundMicrofibrillar-associated protein (MFAP4), initially identified as an extracellular matrix protein, has been demonstrated in multiple human...
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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave...
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Inter- and intra-observer reliability of the “Assessment of Motor Repertoire- 3 to 5 Months” based on video recordings of infants with Prader-Willi syndrome
BackgroundThe “Assessment of Motor Repertoire—3 to 5 Months”, which is a part of Prechtl's General Movements Assessment (GMA), has been gradually...
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Variegation of autism related traits across seven neurogenetic disorders
Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to...
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Unraveling the complexity of the molecular pathways associated with polycystic ovary syndrome (PCOS) and identifying molecular targets for therapeutic development: a review of literature
BackgroundPolycystic ovary syndrome (PCOS) is the most typical endocrine disorder affecting women worldwide. Although the etiology of PCOS is not...
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Melatonin bei Schlafstörungen im Kindes- und Jugendalter
State of researchTo date 33 randomized controlled trials (RCT) of varying quality on the effects of oral melatonin administration in comparison to...
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Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone
PurposeThis study aims to evaluate the prevalence of submicroscopic chromosomal abnormalities found on single nucleotide polymorphism array (SNP...