Smith-Magenis Syndrome

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Also Known As:

Networked: 107 relevant articles (5 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Sleep Initiation and Maintenance Disorders (Insomnia)
2.	Autism Spectrum Disorder
3.	Spasm (Spasms)
4.	Angelman Syndrome (Syndrome, Angelman)
5.	Neoplasms (Cancer)

Experts

1.	Elsea, Sarah H: 12 articles (12/2021 - 11/2006)
2.	Smith, Ann C M: 7 articles (11/2014 - 05/2006)
3.	Girirajan, Santhosh: 7 articles (10/2010 - 11/2006)
4.	Lupski, James R: 6 articles (08/2011 - 11/2003)
5.	Potocki, Lorraine: 5 articles (01/2020 - 11/2003)
6.	Walz, Katherina: 5 articles (05/2018 - 11/2004)
7.	De Leersnyder, H: 5 articles (01/2013 - 07/2001)
8.	Bi, Weimin: 4 articles (11/2006 - 11/2004)
9.	Munnich, A: 4 articles (11/2003 - 07/2001)
10.	Huang, Wei-Hsiang: 3 articles (12/2021 - 10/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Smith-Magenis Syndrome:

1.	MelatoninIBA 09/01/2006 - "This report describes the case of a 4-year-old boy diagnosed with Smith-Magenis syndrome in whom treatment with a beta(1)-adrenergic antagonist in the morning (to suppress the diurnal melatonin secretion) and melatonin in the evening (to generate a nocturnal peak of melatonin) improved his sleep quality, evaluated by polysomnographic studies." 01/01/2020 - "One consequence of reduced function of RAI1, and characteristic of Smith-Magenis syndrome, is an inversion of melatonin secretion resulting in a diurnal rather than nocturnal pattern. " 07/19/2019 - "Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder." 01/01/2018 - "Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. " 01/01/2017 - "In Smith-Magenis syndrome (SMS), the dysregulation of both sleep-wake behavior and melatonin production strongly suggests impaired non-visual light perception. "
2.	tasimelteonIBA 12/01/2021 - "To assess the efficacy of tasimelteon to improve sleep in Smith-Magenis syndrome (SMS). " 12/01/2021 - "Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension."
3.	Adrenergic beta-1 Receptor AntagonistsIBA 09/01/2006 - "Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin."
4.	Risperidone (Risperdal Consta)FDA LinkGeneric 09/01/2007 - "Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. "
5.	TabletsIBA 08/01/2019 - "A randomized, 13-weeks, placebo-controlled double-blind study in 125 subjects aged 2-17.5 years with Autism Spectrum Disorder or Smith-Magenis syndrome and insomnia demonstrated efficacy and safety of easily-swallowed prolonged-release melatonin mini-tablets (PedPRM; 2-5 mg) in improving sleep duration and onset. "
6.	Adrenocorticotropic Hormone (ACTH)FDA Link 10/24/2020 - "Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith-Magenis Syndrome: A Case Report."
7.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "The C9orf72 gene product forms a complex with SMCR8 (Smith-Magenis Syndrome Chromosome Region, Candidate 8) and WDR41 (WD Repeat domain 41) proteins. " 01/01/2019 - "C9orf72 forms a heterodimer with SMCR8 (Smith-Magenis syndrome chromosome region, candidate 8) protein. " 01/01/2016 - "Smith-Magenis syndrome chromosomal region candidate gene 8 (SMCR8) is a protein with unclear functions. " 11/01/2004 - "Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome." 02/15/1999 - "Based on their homologies to known genes or proteins, some of the novel genes are considered candidate genes either for malignant diseases or for the Smith-Magenis syndrome."
8.	Methylphenidate (Ritalin)FDA LinkGeneric 01/01/2022 - "Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome." 01/01/2021 - "Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials."
9.	Retinoic Acid Receptor alphaIBA 11/01/2011 - "In all, 171 patients with breast cancer who had HER2 FISH that had increased mean CEP17 copy numbers (> 2.6) were selected for additional chromosome 17 studies that used probes for Smith-Magenis syndrome (SMS), retinoic acid receptor alpha (RARA), and tumor protein p53 (TP53) genes. "
10.	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/21/2022 - "Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome." 01/01/2022 - "Smith Magenis syndrome (SMS) is a rare neurobehavioral disorder caused by 17p11.2 microdeletion encompassing Retinoic Acid-Induced 1 (RAI1) gene (90% of cases) or by RAI1 point mutation (10% of cases). " 12/01/2021 - "Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. " 11/01/2020 - "We further link retinoic acid-induced 1 (RAI1), the Smith-Magenis syndrome gene, to the transcriptional program driven by reduced network activity. " 05/24/2018 - "Deletions and mutations involving the Retinoic Acid Induced 1 (RAI1) gene at 17p11.2 cause Smith-Magenis syndrome (SMS). "

Therapies and Procedures

1.	Therapeutics 01/01/2023 - "rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice." 01/01/2023 - "Our work provides evidence that rAAV-CRISPRa therapy during early adolescence can boost the expression of healthy Rai1 allele and modify disease progression in a mouse model of Smith-Magenis syndrome." 04/01/2008 - "Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special education, vocational training later in life, and speech/language, physical, and occupational, behavioral, and sensory integration therapies. " 11/21/2022 - "Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. " 10/24/2020 - "Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith-Magenis Syndrome: A Case Report."
2.	Aftercare (After-Treatment) 09/01/2006 - "Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin."
3.	Radio Frequency Identification Device 05/01/2023 - "In this study we used radio frequency identification technology to quantify parent-child proximity overnight in two groups at elevated risk of behavioral insomnia, Angelman syndrome (AS) and Smith-Magenis syndrome (SMS). "
4.	Noninvasive Ventilation 08/05/2016 - "Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome."
5.	Ligation 02/01/2009 - "Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. "