Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome
Male; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Female; Child Preschool; Analysis of Variance; Risk Factors; Psychiatric Status Rating Scales; Adjustment Disorders/etiology; Child Behavior Disorders/etiology; Cri-du-Chat Syndrome/genetics/psychology; Gene Deletion; Intellectual Disability/psychology; Mental Disorders/etiology; Translocation Genetic; behavioral problems; Cri-du-chat; trajectory; characteristics; self-injury; aggression; pain behaviors; mood; low mood; hyperactivity; impulsivity; repetitive language use
This study examined the range, distinctiveness, and correlates of maladaptive behavior in 146 subjects with 5p- (cri du chat) syndrome using the Aberrant Behavior Checklist as a standardized measure. Hyperactivity was the most significant and frequent problem in the sample. Subjects with 5p- syndrome also showed aggression, tantrums, self-injurious behavior, and stereotypies; some of these problems were more pronounced in individuals with lower cognitive-adaptive levels, as well as in those with histories of previous medication trials. Autistic-like features and social withdrawal were more characteristic of individuals with translocations as opposed to deletions, even when controlling for the lower adaptive level of the translocation group. These findings encourage further research on the behavior of individuals with 5p- syndrome.
Dykens E M; Clarke D J
Developmental Medicine and Child Neurology
1997
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1469-8749.1997.tb07377.x" target="_blank" rel="noreferrer noopener">10.1111/j.1469-8749.1997.tb07377.x</a>
The psychosocial well-being of children with chronic disease, their parents and siblings: an overview of the research evidence base.
Child; Humans; Longitudinal Studies; Evidence-Based Medicine; Family Health; Adaptation; Psychological; Parents/psychology; Children W/SNI; Mental Disorders/etiology; Meta-Analysis; Literature review; Chronic Disease/psychology/rehabilitation; Siblings/psychology
BACKGROUND: Chronic disease of childhood may have implications for the psychosocial well-being of children and their families. The purpose of this paper is to provide an overview of the current literature regarding the psychosocial well-being of children with chronic disease, their parents and siblings. METHODS: Electronic searches were conducted using AMED, CINAHL, Cochrane Database, DARE, HTA, MEDLINE, NHS EED, PsycLIT, PsycINFO and PubMED (1990 to week 24, 2004). Inclusion criteria were systematic reviews, meta-analyses and overviews based on traditional reviews of published literature. The titles of papers were reviewed, abstracts were obtained and reviewed, and full copies of selected papers were obtained. RESULTS: Six reviews of the psychosocial well-being of children were identified: three on chronic disease in general, one on asthma, one on juvenile idiopathic arthritis and one on sickle cell disease. Two reviews of psychosocial well-being among parents and two reviews of sibling psychosocial well-being were identified. Evidence from meta-analyses shows that children were at slightly elevated risk of psychosocial distress, although only a minority experience clinical symptomatology. The proportion that experience distress remains to be clarified, as do contributory risk factors. Few conclusions can be drawn from the two reviews of parents. However, a meta-analysis of siblings showed that they are at risk from a number of negative effects. CONCLUSION: This overview has highlighted the need to extend the evidence base for psychosocial well-being of children, parents and siblings.
2006
Barlow JH; Ellard DR
Child: Care, Health And Development
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1111/j.1365-2214.2006.00591.x" target="_blank" rel="noreferrer">10.1111/j.1365-2214.2006.00591.x</a>
Disorders of movement in Leigh syndrome
Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; retrospective studies; Basal Ganglia Diseases/complications/enzymology/physiopathology; Basal Ganglia/enzymology/physiopathology; Brain/enzymology/physiopathology/radiography; Dystonia/complications/diagnosis/physiopathology; Electron Transport Complex IV/metabolism; Enzyme Repression; Leigh Disease/complications/diagnosis/physiopathology; Mental Disorders/etiology; Mitochondrial Encephalomyopathies/complications/enzymology; Movement Disorders/complications/diagnosis/physiopathology
Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1. Dystonia was most commonly multifocal at onset and showed progression in six patients. In half of the cases an enzymatic defect was detected, most commonly cytochrome C oxidase. The neuroradiologic findings showed prominent basal ganglia lesions in 20/21 patients. Putamen, caudate, substantia nigra and globus pallidus were involved in this order of frequency. This experience was reflected in a literature review encompassing 284 cases of LS. However, only 26.4% had MD. Eleven patients, including one of our cases, presented as the primary torsion dystonia phenotype. There are clinical and pathological similarities between LS and other metabolic diseases affecting the central nervous system. The enhanced vulnerability of the nervous system to metabolic stress and the resemblance in the distribution of the pathology of these diverse conditions suggests a common pathogenetic mechanism. An excitotoxin-mediated mechanism is favored, one which might account for the frequent involvement of the basal ganglia in LS.
1993
Macaya A; Munell F; Burke RE; De Vivo DC
Neuropediatrics
1993
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">10.1055/s-2008-1071515</a>