Browse Items · Pediatric Palliative Care Library

Telemedicine: the Pediatric Palliative Perspective (FR476)

Objectives: * Describe the logistics of using telemedicine through an outpatient Pediatric Palliative Clinic. * Describe the experience of using telemedicine from the perspective of the parent, nurse, and physician.

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…

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update

Background: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which…

Tags: 2016, 7 dehydrocholesterol/ec [Endogenous Compound], 8 dehydrocholesterol/ec [Endogenous Compound], adaptive behavior, Adolescent, Adult, Aggression, Albert P, Article, Autism, automutilation, Behavior, Bianconi S, Bukelis I, Case Study, cerebrospinal fluid level, characteristics, Child, Child Rearing, childhood, cholesterol/ec [Endogenous Compound], Clinical Article, Cognition, delayed development, development, Developmental delay, Farmer C, Female, Human, Intelligence Quotient, Interpersonal Communication, Joseph L, Journal of Neurodevelopmental Disorders, Lanham D, Male, Observational Study, Parent, Porter F D, Preschool Child, Priority Journal, problem behavior, Sarphare G, Smith Lemli Opitz syndrome, Smith-Lemli-Opitz syndrome, Socialization, Stanford-Binet Intelligence Scale, Sterols, Swedo S, Thurm A, Tierney E, tone and motor problems, Trajectory, Unclassified Drug, Walking, Wassif C A, Wheeler C, Young Adult

Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients

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…

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…

The Association Between Repetitive, Self-Injurious and Aggressive Behavior in Children With Severe Intellectual Disability

We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data…

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…

Development, behaviour and seizures in 300 cases of tuberous sclerosis

Three hundred cases of tuberous sclerosis were surveyed by postal questionnaire, including 240 cases with learning difficulties. People who have tuberous sclerosis and severe learning disabilities also have a higher frequency of epileptic seizures…

Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease

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…

Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers

Background: Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups…

Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome

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…

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome

The aim of the present study was to determine the prevalence and frequency of stereotypy, self-injurious behaviour (SIB), and aggression in children and adults with Cri du Chat syndrome (CCS), and to investigate the relationship between SIB,…

Behavioural phenotype of Cornelia de Lange syndrome

A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD,…

Tags: 1999, Aggression, Archives of Disease in Childhood, Behavior, Berney T P, Burn J, characteristics, Constipation, De Lange syndrome, feeding difficulties, hyperactivity, Ireland M, self-injury, sleep disturbance, tone and motor problems, Trajectory

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