Browse Items (58 total)

Background Psychological tests can be useful to record adaptive and maladaptive behaviours of children with intellectual disability. The objective of this study was to describe the adaptive and maladaptive behaviour of children and adolescents with…

Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB).…

The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was…

Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having…

PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of…

Children with the 22q11.2 deletion syndrome (22q11DS) are at an increased risk of psychiatric problems from pre-adolescence; little is known, however, about behavioral problems at a preschool age and the relationship between speech and behavior in…

Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their…

The purpose of this study was to validate the Behavior Problem Inventory-01 (BPI-01; Rojahn J Autism Dev Disord 31:577-588, 2001) in a population of 179 individuals with Cornelia de Lange Syndrome (CdLS) and to extend the literature on the behavioral…

Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine…

Lesch-Nyhan syndrome is a rare, sex-linked, recessive disease that is accompanied by severe self-mutilation, especially finger biting. Evidence is presented suggesting that parental response patterns may contribute to the genesis of the…

AIM Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS.…

BACKGROUND: Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. AIMS: To delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder. METHOD: A total of…

Patients with 22q11DS are at risk of behavioral problems and cognitive impairment. Recent studies suggest a possible intellectual decline in 22q11DS children. To date it is unknown if cognitive development is related to the behavioral problems in…

[Purpose] We compared problematic behaviors of children according to the severity of their mental retardation (MR) of intellect as categorized by the Ryouiku Techou in this study, to investigate the influence of MR of intellect on children's…

Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to…

The results of a survey given to parents with Sanfilippo syndrome (MPS III) children (n = 30) are described with an emphasis in several areas. Developmental and degenerative patterns are outlined in detail and contrasted with developmental milestones…

Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16…

Evaluation of a Manualized Group Program for Siblings of Children with Diseases or Disabilities This study evaluates a manualized group program for siblings of children with life-threatening/life-limiting diseases or disabilities. The program aims to…

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation…

Background: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung…

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a…

BACKGROUND: Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of…

Background Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to…

Problem behaviors of individuals who had one of three chromosome deletion disorders (5p- cri-du-chat, 15q- Prader-Willi, or 17p- Smith-Magenis) were investigated. The Aberrant Behavior Checklist was used. Results were contrasted with those of two…

Four cases of the Lesch Nyhan syndrome found in the Tokyo area were given L 5 hydroxytryptophan orally. L 5 hydroxy tryptophan relieved self mutilation effectively without causing any side effects. However this substance did not alleviate…

BACKGROUND: Velocardiofacial syndrome (VCFS), a genetic deletion condition with numerous cognitive sequelae, is associated with a high rate of psychiatric disorders in childhood. More recently, VCFS has been identified as a high-risk factor for…

The self injurious behavior of five male children with Lesch Nyhan disease was studied during three learning paradigms: punishment, positive reinforcement and time out from reinforcement following an attempt at self injury. Punishment of self injury…

The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity,…

Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting females. It is characterized by apparently normative development of motor and communicative abilities followed by deterioration in these domains. Stereotypic hand movements are…

Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause…

Researchers have argued that individuals who show self-restraint are more likely to show self-injurious behavior (SIB) that is compulsive. Self-injurious behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia…
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