Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome

Alaimo, Joseph T.; Barton, Laura; Mullegama, Sureni V; Wills, Rachel; Foster, Rebecca; Elsea, Sarah H.

doi:10.1016/j.ridd.2015.08.011

Cited by 33 publications

(28 citation statements)

References 20 publications

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“…The incidence is 1 in 25,000. The syndrome is characterized by intellectual disability, sleep disturbances, early-onset obesity, and distinct behavioral abnormalities (such as self-injurious behavior) [5]. Guerin-Moreau et al examined dermatologic findings in 20 patients with SMS.…”

Section: Discussionmentioning

confidence: 99%

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report

McKenzie

Hsiao

2019

Cureus

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Hidradenitis suppurativa (HS) is an inflammatory disorder characterized by recurrent painful nodules and draining sinus tracts with subsequent scarring. HS has been associated with several dermatologic syndromes including the follicular occlusion tetrad, PASH (pyoderma gangrenosum, acne, and suppurativa hidradenitis), PAPASH (pyogenic arthritis, pyoderma gangrenosum, acne, and suppurativa hidradenitis), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndromes. However, aside from the well-established association between HS and Down Syndrome, it has rarely been reported in association with other multisystem genetic diseases. We report a case of HS in a 22-year-old man with Smith-Magenis syndrome (SMS), a developmental disorder caused by a chromosomal 17 microdeletion. Obesity and a tendency toward follicular occlusion are features of SMS that may have contributed to the development of HS in our patient. Interestingly, the patient also had several other follicular-based skin diseases including erythromelanosis follicularis faciei, keratosis pilaris, and acne keloidalis nuchae. Dermatologic findings in SMS have been characterized in the literature in the past, but to our knowledge, this is the first case of HS reported in a patient with SMS. We also provide a brief literature review of cases of HS occurring in patients with other multisystem genetic diseases.

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Section: Discussionmentioning

confidence: 99%

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report

McKenzie

Hsiao

2019

Cureus

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“…Patients present with mental retardation, developmental delay, behavioural abnormalities, hypotonia and craniofacial anomalies . Individuals with SMS display similar pre‐occupation with food, impaired satiety and hyperphagia as patients with PWS . This results in severe early onset obesity, paralleling that of PWS.…”

Section: Lazy‐thrifty Versus Peppy‐thrifty Genotype Hypothesismentioning

confidence: 99%

Revisiting the evolutionary origins of obesity: lazy versus peppy‐thrifty genotype hypothesis

et al. 2018

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The recent global obesity epidemic is attributed to major societal and environmental changes, such as excessive energy intake and sedentary lifestyle. However, exposure to 'obesogenic' environments does not necessarily result in obesity at the individual level, as 40-75% of body mass index variation in population is attributed to genetic differences. The thrifty genotype theory posits that genetic variants promoting efficient food sequestering and optimal deposition of fat during periods of food abundance were evolutionarily advantageous for the early hunter-gatherer and were positively selected. However, the thrifty genotype is likely too simplistic and fails to provide a justification for the complex distribution of obesity predisposing gene variants and for the broad range of body mass index observed in diverse ethnic groups. This review proposes that gene pleiotropy may better account for the variability in the distribution of obesity susceptibility alleles across modern populations. We outline the lazy-thrifty versus peppy-thrifty genotype hypothesis and detail the body of evidence in the literature in support of this novel concept. Future population genetics and mathematical modelling studies that account for pleiotropy may further improve our understanding of the evolutionary origins of the current obesity epidemic.

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“…Other congenital abnormalities include: congenital heart disease in 30% of patients (including cyanotic heart lesions), spleen and kidney malformations, hypothyroidism, hypercholesterolemia, and specific immunoglobulin deficiency. Lastly, many subjects are obese, and there has been evidence to suggest hyperphagia similar to patients with PWS [ 56 ].…”

Section: Review Of Disordersmentioning

confidence: 99%

Sleep Disorders in Childhood Neurogenetic Disorders

2017

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Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.

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Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome

Cited by 33 publications

References 20 publications

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report

Revisiting the evolutionary origins of obesity: lazy versus peppy‐thrifty genotype hypothesis

Sleep Disorders in Childhood Neurogenetic Disorders

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