Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy

Einspieler, Christa; Hirota, Hiroyo; Yuge, Mariko; Dejima, Sunao; Marschik, Peter B.

doi:10.3109/17518423.2011.654281

Cited by 24 publications

(28 citation statements)

References 20 publications

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“…27,62---64 FMs were also missing in a 4-month-old boy who was later diagnosed with Smith-Magenis syndrome. 65 An absence of FMs associated with subtle dysmorphic features justifies referral for genetic evaluation, which may facilitate earlier diagnosis.…”

Section: Fms Associated With Genetic Disordersmentioning

confidence: 99%

Fidgety movements – tiny in appearance, but huge in impact

Einspieler

Peharz

Marschik

2016

Jornal de Pediatria

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118

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Abnormal, absent, or sporadic FMs indicate an increased risk for later neurological dysfunction, whereas normal FMs are highly predictive of normal development, especially if they co-occur with other smooth and fluent movements. Early recognition of neurological signs facilitates early intervention. It is important to re-assure parents of infants with clinical risk factors that the neurological outcome will be adequate if FMs develop normally.

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Section: Fms Associated With Genetic Disordersmentioning

confidence: 99%

Fidgety movements – tiny in appearance, but huge in impact

Einspieler

Peharz

Marschik

2016

Jornal de Pediatria

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118

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“…Cramped-synchronized GMs and the absence of fidgety movements are particularly good predictors of cerebral palsy (e.g., Prechtl et al, 1997 ; Einspieler et al, 2012b ), whereas poor repertoire GMs and abnormal fidgety movements tend to be associated with minor neurological dysfunctions (e.g., Nakajima et al, 2006 ; Einspieler et al, 2007 ; Bruggink et al, 2008 ; Yuge et al, 2011 ). Only recently was the focus put on the question whether or not GMA might also shed light on cognitive and language development (e.g., Butcher et al, 2009 ; Bruggink et al, 2010 ; Spittle et al, 2013 ) or behavioral, mental, and genetic disorders (e.g., Hadders-Algra et al, 2009 ; Marschik et al, 2009 , 2015 ; Einspieler et al, 2012a , 2014 ; Zappella et al, 2015 ).…”

Section: What Are General Movements?mentioning

confidence: 99%

The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction

et al. 2016

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Apart from motor and behavioral dysfunctions, deficits in cognitive skills are among the well-documented sequelae of preterm birth. However, early identification of infants at risk for poor cognition is still a challenge, as no clear association between pathological findings based on neuroimaging scans and cognitive functions have been detected as yet. The Prechtl General Movement Assessment (GMA) has shown its merits for the evaluation of the integrity of the young nervous system. It is a reliable tool for identifying infants at risk for neuromotor deficits. Recent studies on preterm infants demonstrate that abnormal general movements (GMs) also reflect impairments of brain areas involved in cognitive development. The aim of this systematic review was to discuss studies that included (i) the Prechtl GMA applied in preterm infants, and (ii) cognitive outcome measures in six data bases. Seven studies met the inclusion criteria and yielded the following results: (a) children born preterm with consistently abnormal GMs up to 8 weeks after term had lower intelligence quotients at school age than children with an early normalization of GMs; (b) from 3 to 5 months after term, several qualitative, and quantitative aspects of the concurrent motor repertoire, including postural patterns, were predictive of intelligence at 7–10 years of age. These findings in 428 individuals born preterm suggest that normal GMs along with a normal motor repertoire during the first months after term are markers for normal cognitive development until at least age 10.

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“…These children are usually described by their parents as being very calm and sleeping a lot. Compared to other children, they seem to make fewer spontaneous movements and frequently show hypotonia, which may contribute to worsen their motor delay [ 36 ]. Their walk may be somewhat unstable but they do not present with true ataxia.…”

Section: Neurological Disordersmentioning

confidence: 99%

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Poisson

Nicolas

Cochat

et al. 2015

Orphanet J Rare Dis

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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.DiscussionOnce 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.SummaryTreatment 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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Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy

Abstract: It was concluded that an absence of fidgety movements that goes along with subtle dysmorphic features indicates an increased risk of maldevelopment and justifies the need to refer for genetic evaluation with the potential of facilitating earlier diagnosis.

Cited by 24 publications

References 20 publications

Fidgety movements – tiny in appearance, but huge in impact

Fidgety movements – tiny in appearance, but huge in impact

The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

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