Browse Items · Pediatric Palliative Care Library

Behaviour in Cornelia de Lange syndrome: a systematic review

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.…

Tags: 2017, behavioral problems, characteristics, De Lange syndrome, Developmental Medicine and Child Neurology, Hennekam R C, Huisman S A, Mulder P A, Oliver C, Piening S, Trajectory, Van Balkom I D C

A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome

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…

Tags: 2017, behavioral problems, Bergsaker D K, characteristics, chromosome 4p deletion, European Journal of Medical Genetics, Hoxmark L B, Hunn B S, Nag H E, Schmidt S, sleep disturbance, tone and motor problems, Trajectory

A Longitudinal Follow-Up Study of Affect in Children and Adults With Cornelia de Lange Syndrome

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome…

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study

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…

Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome

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…

Serotonergic approaches to the modification of behavior in the Lesch-Nyhan syndrome

In a series of patients with the Lesch-Nyhan syndrome a pharmacologic attempt was made to alter the balance of biogenic amines in the central nervous system by increasing the level of serotin. Patients were treated with 5-hydroxytryptophan in…

Tags: 1980, 5-hydroxy-tryptophan, Applied Research in Mental Retardation, behavioral problems, Johnson H G, Jones K L, Kaufman I A, Lesch-Nyhan syndrome, Nyhan W L, pharmacologic intervention, Self-Injurious behavior

Rett syndrome: A preliminary analysis of stereotypy, stress, and negative affect

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…

Tags: 2014, behavioral problems, Byiers B J, characteristics, hand stereotypy, negative affect, Payen A, Quest K M, Research in Developmental Disabilities, Rett syndrome, stereotypy, Symons F J, tone and motor problems, Trajectory

Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease

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…

Behavior Problems in Individuals with Cornelia de Lange Syndrome: Population-Specific Validation of the Behavior Problem Inventory-01

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…

The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part II: reliability and validity

Background The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument for intellectual disabilities (ID) with 49 items and three sub-scales: Self-injurious Behavior, Stereotyped Behavior and Aggressive/Destructive…

The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: part I: development and provisional clinical reference data

BACKGROUND: The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument that was designed to assess maladaptive behaviours in individuals with intellectual disabilities (ID). Its items fall into one of three…

Behavioral aspects of Lesch-Nyhan disease and its variants

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…

Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale

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,…

Autism traits in children and adolescents with Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children…

Tags: 2014, Aberrant Behavior Checklist, adaptive behavior, Adolescent, Adult, Age, American Journal of Medical Genetics Part A, Article, Autism, behavior disorder, Behavioral phenotype, behavioral problems, characteristics, Checklist, Child, Childhood Autism Rating Scale, Clark B, Clinical Article, Communication, communication disorder, compulsion, Cornelia de Lange syndrome, daily life activity, De Lange syndrome, Diagnosis, Disease Severity, Emotion, Female, Grados M A, Human, hyperactivity, Intellectual Impairment, Interpersonal Communication, Irritability, Kline A D, Landy-Schmitt C, Language, lethargy, limb, maladjustment, Male, Phenotype, Priority Journal, psychological rating scale, Rating Scale, Repetitive behaviors, rigidity, Skill, social cognition, Socialization, Specht M, Srivastava S, stereotypy, Trajectory, Verbal Communication, Vineland Adaptive Behaviors Scales

A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome

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…

Comparison of Problematic Behavior According to the Ryouiku Techou Standard

[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…

What Problematic Behaviors are Observed among Mentally Handicapped Children Receiving Pediatric Physical Therapy?

[Purpose] This study aimed to examine problematic behaviors of mentally handicapped children receiving pediatric physical therapy, through applying the Japanese version of the Aberrant Behavior Checklist(ABC-J) to persons receiving pediatric physical…

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome

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…

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