Motor stereotypies in children with autism and other developmental disorders.
Centre for Developmental Psychiatry and Psychology, Monash University, Nottinghill, Australia.Developmental Medicine & Child Neurology (impact factor: 2.92). 02/2009; 51(1):2-3. DOI:10.1111/j.1469-8749.2008.03193.x pp.2-3
Article: Motor stereotypies.[show abstract] [hide abstract]
ABSTRACT: Stereotypic movements are ubiquitous, occur in a variety of forms, and exist in different populations, ranging from individuals with autism to typically developing children. Although such movements are required to be restricted, repetitive, and purposeless, their definition and included activities remain broad and imprecise. Movements are typically classified into 2 groups, primary (physiological) and secondary (pathological), depending upon the presence of additional signs or symptoms. Although some view these movements as behaviors produced to alter a state of arousal, there is increasing evidence to support a neurobiological mechanism. Behavioral and pharmacological therapies have been used with varying effect.Seminars in pediatric neurology 07/2009; 16(2):77-81.
Article: Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders.[show abstract] [hide abstract]
ABSTRACT: BACKGROUND: Structural variation in the neurexin-1 (NRXN1) gene increases risk for both autism spectrum disorders (ASD) and schizophrenia. However, the manner in which NRXN1 gene variation may be related to brain morphology to confer risk for ASD or schizophrenia is unknown. METHOD/PRINCIPAL FINDINGS: 53 healthy individuals between 18-59 years of age were genotyped at 11 single nucleotide polymorphisms of the NRXN1 gene. All subjects received structural MRI scans, which were processed to determine cortical gray and white matter lobar volumes, and volumes of striatal and thalamic structures. Each subject's sensorimotor function was also assessed. The general linear model was used to calculate the influence of genetic variation on neural and cognitive phenotypes. Finally, in silico analysis was conducted to assess potential functional relevance of any polymorphisms associated with brain measures. A polymorphism located in the 3' untranslated region of NRXN1 significantly influenced white matter volumes in whole brain and frontal lobes after correcting for total brain volume, age and multiple comparisons. Follow-up in silico analysis revealed that this SNP is a putative microRNA binding site that may be of functional significance in regulating NRXN1 expression. This variant also influenced sensorimotor performance, a neurocognitive function impaired in both ASD and schizophrenia. CONCLUSIONS: Our findings demonstrate that the NRXN1 gene, a vulnerability gene for SCZ and ASD, influences brain structure and cognitive function susceptible in both disorders. In conjunction with our in silico results, our findings provide evidence for a neural and cognitive susceptibility mechanism by which the NRXN1 gene confers risk for both schizophrenia and ASD.PLoS ONE 01/2011; 6(6):e20982. · 4.09 Impact Factor
Article: A qualitative motion analysis study of voluntary hand movement induced by music in patients with Rett syndrome.[show abstract] [hide abstract]
ABSTRACT: Patients with Rett syndrome are known to respond well to music irrespective of their physical and verbal disabilities. Therefore, the relationship between auditory rhythm and their behavior was investigated employing a two-dimensional motion analysis system. Ten female patients aged from three to 17 years were included. When music with a simple regular rhythm started, body rocking appeared automatically in a back and forth direction in all four patients who showed the same rocking motion as their stereotyped movement. Through this body rocking, voluntary movement of the hand increased gradually, and finally became sufficient to beat a tambourine. However, the induction of body rocking by music was not observed in the other six patients who did not show stereotyped body rocking in a back and forth direction. When the music stopped suddenly, voluntary movement of the hand disappeared. When the music changed from a simple regular rhythm to a continuous tone without an auditory rhythm, the periodic movement of both the hand and body prolonged. Auditory rhythm shows a close relationship with body movement and facilitates synchronized body movement. This mechanism was demonstrated to be preserved in some patients with Rett syndrome, and stimulation with music could be utilized for their rehabilitation.Neuropsychiatric Disease and Treatment 01/2009; 5:499-503. · 1.81 Impact Factor
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