ArticleOrphanet journal of rare diseases2015
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review.Journal of neurodevelopmental disorders · 2026Pooled it
- Potential Contributions of Sleep and Circadian Rhythms to Behavioral Difficulties in Children with Smith-Magenis Syndrome in Real Life: An Actigraphy-Based Study.Children (Basel, Switzerland) · 2026Article
- From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.Developmental neurobiology · 2026Article
- Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.Sleep & breathing = Schlaf & Atmung · 2026Review
- Sleep disorders in children/adolescents with neurodevelopmental and neurological disorders: what evidences do we have with the use of non-pharmacological interventions?Frontiers in sleep · 2026Review
- Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.Journal of rare diseases (Berlin, Germany) · 2026Article
- Clinical, Sleep, and Chronobiological Characteristics of Children with Smith-Magenis Syndrome Under Treatment for Sleep Disorders.Children (Basel, Switzerland) · 2025Article
- Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.European journal of pediatrics · 2024Article
- Review
- Genome-wide CRISPR-Cas9 screen analyzed by SLIDER identifies network of repressor complexes that regulate TRIM24.iScience · 2023Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- Update on Diagnosis and Management of Onychophagia and Onychotillomania.International journal of environmental research and public health · 2022Review
- Review
- Article
- Age-related changes in behavioural and emotional problems in Smith-Magenis syndrome measured with the Developmental Behavior Checklist.Journal of intellectual disabilities : JOID · 2021Article
- Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.Orphanet journal of rare diseases · 2021Article
- Article
- Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.Frontiers in genetics · 2021Article
- DRG2 Deficient Mice Exhibit Impaired Motor Behaviors with Reduced Striatal Dopamine Release.International journal of molecular sciences · 2019Article
- Parental experiences with behavioural problems in Smith-Magenis syndrome: The need for syndrome-specific competence.Journal of intellectual disabilities : JOID · 2019Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSmith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene. Behavioral disorders often include outbursts, attention deficit/hyperactivity disorders, self-injury with onychotillomania and polyembolokoilamania (insertion of objects into body orifices), etc. Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues. Sleep disturbances associate excessive daytime sleepiness with nighttime agitation. They are underpinned by an inversion of the melatonin secretion cycle. However, the combined intake of beta-blockers in the morning and melatonin in the evening may radically alleviate the circadian rhythm problems. DISCUSSION: Once sleep disorders are treated, the next challenge is finding an effective treatment for the remaining behavioral problems. Unfortunately, there is a lack of objective guidelines. A comprehensive evaluation of such disorders should include sleep disorders, potential causes of pain, neurocognitive level and environment (i.e. family and school). In any case, efforts should focus on improving communication skills, identifying and treating attention deficit/hyperactivity, aggressiveness and anxiety. Treatment of Smith-Magenis syndrome is complex and requires a multidisciplinary team including, among others, geneticists, psychiatrists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, and speech and language therapists.
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