Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith–Magenis Syndrome and a Twin Control

Smith, M. I.; Hildenbrand, Hanna; Smith, Ann C. M.

doi:10.1080/01942630903028408

Cited by 7 publications

(3 citation statements)

References 25 publications

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“…As mentioned before, the accuracy of our ID levels is questionable and therefore not used to draw any conclusions. In general, administering formal psychometric assessments is often reported to be very difficult with people with SMS, due to the maladaptive behaviours, sleep disturbance and difficulties in expressive language skills [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

et al. 2018

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BackgroundA substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern.MethodsParents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway.We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart.ResultsWe found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems.Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores.ConclusionWe found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors assumed to explain the male bias in ASD.

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Section: Discussionmentioning

confidence: 99%

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

et al. 2018

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“…Suskauer et al, 2003 have used this tool to evaluate the temperament and physical performance in children with OI. Smith et al, 2009 have used the BAMF to verify the sensory motor and functional skills of dizygotic twins. It is important to consider that in all the papers presented in this review, the conclusions indicate the importance of the WBV to improve clinical condition of the patients with OI.…”

Section: Discussionmentioning

confidence: 99%

Whole-Body Vibration Exercise Improves Functional Parameters in Patients With Osteogenesis Imperfecta: A Systematic Review With a Suitable Approach

Sá-Caputo¹,

Dionello²,

Frederico³

et al. 2017

Afr J Tradit Complement Altern Med

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Background: Patients with osteogenesis imperfecta (OI) have abnormal bone modelling and resorption. The bone tissue adaptation and responsivity to dynamic and mechanical loading may be of therapeutic use under controlled circumstances. Improvements due to the wholebody vibration (WBV) exercises have been reported in strength, motion, gait, balance, posture and bone density in several osteopenic individuals, as in post-menopausal women or children with disabling conditions, as patients with OI. The aim of this investigation was to systematically analyse the current available literature to determine the effect of WBV exercises on functional parameters of OI patients. Materials and methods: Three reviewers independently accessed bibliographical databases. Searches were performed in the PubMed, Scopus, Science Direct and PEDro databases using keywords related to possible interventions (including WBV) used in the management of patients with osteogenesis imperfecta. Results: Three eligible studies were identified by searches in the analysed databases. Conclusion: It was concluded that WBV exercises could be an important option in the management of OI patients improving the mobility and functional parameters. However, further studies are necessary for establishing suitable protocols for these patients.

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“…Besides hyperactivity and attention seeking, patients with SMS may present agressive and self-injurious behavior, including hand biting, head banging, face slapping, self-hanging, onychotilomania and polyembolokotonia [16,19,[29][30][31][32][33][34][35]. Other signs reported in up to 50% of patients include obesity, cardiacs defects, seizures, cleft lip/palate and male hypogonadism [22].…”

Section: Childhood/adolescencementioning

confidence: 99%

Intellectual and Behavioral Disabilities in Smith — Magenis Syndrome

Moretti‐Ferreira¹

2013

Developmental Disabilities - Molecules Involved, Diagnosis, and Clinical Care

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Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith–Magenis Syndrome and a Twin Control

Cited by 7 publications

References 25 publications

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Whole-Body Vibration Exercise Improves Functional Parameters in Patients With Osteogenesis Imperfecta: A Systematic Review With a Suitable Approach

Intellectual and Behavioral Disabilities in Smith — Magenis Syndrome

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