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Author: Stewart Einfeld (70)


Mar
2018

PWS is a severe developmental disability for which there is no known treatment. The oxytocin system is currently a primary target for intervention. The aim of this article is to review the evidence for the efficacy of intranasal oxytocin in PWS.

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Jan
2018

Children with a developmental disability are three to four times more likely than their typically developing peers of developing significant emotional and behavioural problems. There is strong evidence to suggest that individual biological and psychological factors interact with family functioning to precipitate and perpetuate these problems.
This study examined the psychometric properties of a brief measure, the Parent and Family Adjustment Scales (PAFAS) for use with parents of children with a developmental disability.

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Sep
2017

Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways.

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Oct
2017

To examine socio-demographic factors associated with maternal help-seeking for child developmental concerns in a longitudinal birth cohort study. An understanding of these factors is critical to improving uptake of services to maximise early identification and intervention for developmental concerns.
A birth cohort was recruited from the post-natal wards of two teaching hospitals and through community nurses in South Western Sydney, Australia, between November 2011 and April 2013.

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Oct
2017

Adolescents with intellectual disability have increased rates of psychopathology compared with their typically developing peers and present to hospital more frequently for ambulant conditions. The aim of this study is to describe the psychopathology and related characteristics of a sample of adolescents with intellectual disability who presented to general hospital services.
We investigated a cohort of adolescents with intellectual disability in South East Queensland, Australia between January 2006 and June 2010.

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Dec
1969

Regular health visits for parents with young children provide an opportunity for developmental surveillance and anticipatory guidance regarding common childhood problems and help to achieve optimal developmental progress prior to school entry. However, there are few published reports from Australian culturally and linguistically diverse (CALD) communities exploring parents' experiences for accessing child health surveillance programs. This paper aims to describe and explain parental experiences for accessing developmental surveillance and anticipatory guidance for children.

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Mar
2017

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.

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Mar
2017

We explored the effectiveness of a sensory-based, family-centered coaching approach to changing problematic routines for young children with autism. Three mothers of young children with autism, atypical sensory processing, and global developmental delay each participated in a single-case experimental ABA design study. Mothers selected a problematic daily routine linked to sensory challenges as the focus of four intervention sessions provided in the home.

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Dec
1969

Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. The aim of this study was to compare changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood in two different Australian cohorts.
Emotional and behavioural problems were measured over three time points using the Developmental Behaviour Checklist (DBC) for those with Down syndrome (n = 323 at wave one) and compared to those with intellectual disability of another cause (n = 466 at wave one).

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Dec
2016

Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, hypogonadism, small hands and feet, distinct facial features and usually intellectual impairment. The disorder is associated with severe behavioral disturbances which include hyperphagia leading to morbid obesity, temper outbursts, skin-picking, and compulsive behaviors. While the brain mechanisms that underpin these disturbances are unknown these behaviors suggest a lack of inhibition and thus gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter may be implicated.

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Feb
2017

Individuals with an autism spectrum disorder commonly have limited social participation. This study aimed to examine the similarities and differences of everyday participation among males and females with autism spectrum disorder in Australia and Taiwan, using an experience sampling methodology. A total of 14 Australians (4 males, aged 16-43 years) and 16 Taiwanese (12 males, aged 19-45 years) with autism spectrum disorder who are cognitively able were asked to carry a device which prompted them seven times per day for 7 days, to record everyday participation: where they were, what they were doing, and who they were with.

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Mar
2016

The "Watch Me Grow" (WMG) study examines the current developmental surveillance system in South West Sydney. This paper describes the establishment of the study birth cohort, including the recruitment processes, representativeness, follow-up and participants' baseline risk for future developmental risk.
Newborn infants and their parents were recruited from two public hospital postnatal wards and through child health nurses during the years 2011-2013.

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Feb
2016

In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS) and autism spectrum disorder (ASD). The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group).

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Apr
2016

This study explored the everyday life experiences of individuals with an autism spectrum disorder (ASD). Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger syndrome/high functioning autism recorded what they were doing, level of interest/involvement, emotional reactions and preference for being alone 7 times/day for 7 days. Multilevel analyses showed that 'solitary/parallel leisure' and 'social activities' were positively associated with interest and involvement.

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Mar
2016

Sleep disturbance in Mowat-Wilson syndrome.

Am J Med Genet A 2016 Mar 21;170(3):654-60. Epub 2015 Dec 21.
Elizabeth Evans, David Mowat, Meredith Wilson, Stewart Einfeld
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS.

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Dec
1969

The purpose of the present study was to examine motivation for the contextual nature of motivations for social participation in cognitively able adolescents and adults with autism spectrum disorder, using self-determination theory as a theoretical framework.
Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger's syndrome and high functioning autism were asked to carry a device which prompted them seven times/day for 7 days, to record what they were doing, with whom, perceived difficulty and social reciprocity, and the reasons for engaging in a situation, which were then coded into degree of self-determination.
Multilevel analyses showed that participants were more likely to be self-determined while engaging in "solitary/parallel leisure" and "social activities" than in other types of activities.

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Jun
2015

A systematic review was conducted of outcome measures used in treatment trials for older adolescents and adults with autism spectrum disorders (ASDs). Of 818 titles only 30 articles (19 of which involved pharmacological treatments) were identified that met inclusion criteria (sample size > 5; mean age of group > 15 years; mean IQ > 30; ASD diagnosis confirmed; use of objective ASD outcome measures; focus on symptoms core to or typically associated with ASDs). Selected studies included randomized and placebo-controlled trials, retrospective assessment studies, case series and open label or case-control trials.

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May
2015

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general population. People with Down syndrome have been reported as experiencing fewer behavioral problems than others with intellectual disability, although still at a greater level than the non-intellectually disabled population, except for depression and Alzheimer disease. The aim of this study was to describe the trajectories of subscales of behavior, including depressive symptoms, communication disturbance, anxiety, disruptiveness, and social relating abilities, for young adults with Down syndrome.

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Jun
2015

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome.

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Mar
2015

To provide a review of the recent advances in the diagnosis and treatment of psychiatric disorders in Prader-Willi syndrome (PWS).
Research in the last 12 months has provided a descriptive prognosis of psychosis in PWS and highlighted the possible genes associated with the increased risk of psychosis for those with maternal uniparental disomy (mUPD). Several studies investigating social and communication skills have shown people with PWS to have difficulty with core, receptive and expressive language skills, interpreting emotional valence in faces, playing with children of their own age, understanding personal space and a developmental delay in the theory of mind.

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Oct
2014

Young adults with Down syndrome experience increased rates of emotional and behavioural problems compared with the general population. Most adolescents with Down syndrome living in Western Australia participate in sheltered employment as their main day occupation. Relationship between day occupation and changes in behaviour has not been examined.

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Dec
1969

The concept of disability is now understood as a result of the interaction between the individual, features related to impairment, and the physical and social environment. It is important to understand these environmental influences and how they affect social participation. The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and social environment.

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Sep
2014

Universal developmental surveillance programs aimed at early identification and targeted early intervention significantly improve short- and long-term outcomes in children at risk of developmental disorders. However, a significant challenge remains in providing sufficiently rigorous research and robust evidence to inform policy and service delivery. This paper describes the methods of the 'Watch Me Grow' study that aims to maximise accurate early detection of children with developmental disorders through a partnership formed between policy makers, service providers and researchers.

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Dec
2014

We investigated the association between exposure to environmental risks in early childhood and the prevalence and persistence of conduct difficulties (CD) in children with intellectual disability (ID) who did not have autistic spectrum disorder (ASD), children with ASD and typically developing (TD) children. Results indicated that: (1) exposure to risk was associated with elevated prevalence of CD at age three and, for TD children and children with ID, increased risk of CD persisting to ages five and seven; (2) at all levels of risk, children with ASD were more likely to show persistent CD than other children; (3) children with ID were no more likely to show persistent CD than TD children at low levels of exposure to environmental risk.

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Apr
2015

There is increasing interest in oxytocin as a therapeutic to treat social deficits in autism spectrum disorders (ASD). The aim of this study was to investigate the efficacy of a course of oxytocin nasal spray to improve social behavior in youth with ASD.
In a double-blind, placebo-controlled trial across two Australian university sites between February 2009 and January 2012, 50 male participants aged between 12 and 18 years, with Autistic or Asperger's Disorder, were randomized to receive either oxytocin (n = 26) or placebo (n = 24) nasal sprays (either 18 or 24 International Units), administered twice-daily for 8 weeks.

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Sep
2014

Individuals with Prader-Willi syndrome (PWS) have a significant reduction in the number of oxytocin-producing neurons (42%) in the hypothalamic paraventricular nucleus. A number of animal studies and observations of humans show that lesions in this region can produce PWS-like symptoms. Given the evidence for potential oxytocin deficiency, we tested the effects of a course of intranasal oxytocin on PWS symptoms.

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Jul
2014

Understanding experiences from the perspective of adults with autism spectrum disorders (ASD), in the myriad of circumstances in which they find themselves every day, is crucial for developing client-centered interventions. However, capturing these experiences can be difficult.
To investigate the feasibility and usability of experience sampling method (ESM), an ecological momentary assessment, for studying individuals with ASD.

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Dec
2014

Longitudinal research has demonstrated that social outcomes for adults with autism are restricted, particularly in terms of employment and living arrangements. However, understanding of individual and environmental factors that influence these outcomes is far from complete. This longitudinal study followed a community sample of children and adolescents with autism into adulthood.

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Aug
2014

The literature on the association between behavioural and emotional problems and ageing in adults with Down syndrome (DS) without dementia is limited and has generally not reported on a wide range of behavioural and emotional problems. This research aimed to extend the field by examining the associations between age and a wide spectrum of behavioural and emotional problems in adults with DS without dementia. A preliminary analysis of the association between potential covariates and behavioural and emotional problems was also undertaken.

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Sep
2014

To explore relationships between family quality of life, day occupations and activities of daily living (ADL) of young persons with Down syndrome.
Data were collected from 150 families with a young person with Down syndrome aged 16-30 years participating in the Down syndrome "Needs Opinions Wishes" database. Data described the young person's characteristics (including functional abilities, behaviour and day occupations) and family characteristics (including income, family and community supports and quality of life).

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Jul
2014

The current study aims to evaluate the psychometric properties of the Emotion Regulation and Social Skills Questionnaire (ERSSQ), a rating scale designed specifically to assess the social skills of young people with Autism Spectrum Disorder (ASD). The participants were 84 children and young adolescents with ASD, aged between 7.97 and 14.

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Feb
2014

Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged.

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Jan
2014

Information on the use of psychotropic medications in adolescents with intellectual disability is scant. Such information can guide interventions to improve psychotropic medication use in this population. We investigated the prevalence of, and factors associated with, psychotropic medication use in adolescents with intellectual disability in Australia who live in the community.

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May
2013

To review the recent evidence regarding early intervention and prevention studies for children with developmental disabilities and behaviour problems from 2011 to 2013. Recent advances in the field are discussed and important areas for future research are highlighted.
Recent reviews and studies highlight the utility of antecedent interventions and skills training interventions for reducing behaviour problems.

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Oct
2012

Human 'functioning' is about how people live on a day-to-day basis. This paper sets out the case for adopting a common language about functioning that would improve population health information and information sharing across health and community service systems.
Modern health systems recognise the importance of human functioning in addition to diagnosis and disease prevention.

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Mar
2012

High rates of behavior and emotional problems have been consistently reported in children and adolescents with autism. Elevated rates of mental health problems have also been reported in adults with autism. Little is known, however, about the longitudinal development of behavior and emotional problems in autism.

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May
2012

Children are motivated to engage in stereotypic and repetitive behaviours for a number of reasons. Their motivation seems to change according to context, but little empirical evidence supports that observation. Interventions designed to reduce the behaviours may be improved by an increased understanding of the interaction between motivation and context.

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Mar
2012

In low- and middle-income (LAMI) countries, there is a lack of well-trained therapists to provide specialist interventions for children with intellectual disabilities and their families. We sought to identify strategies deliverable by families or non-specialist workers.
After searches of appropriate scientific databases, we applied GRADE methodology to rate the quality of evidence for these interventions.

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Mar
2012

Given the paucity of relevant data, this study estimates the cost of intellectual disability (ID) to families and the government in Australia.
Family costs were collected via the Client Service Receipt Inventory, recording information relating to service use and personal expense as a consequence of ID. Government expenditure on the provision of support and services was estimated using top-down costing.

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Mar
2012

Standardised normative data for checklists of behavioural and emotional disturbance have a demonstrated usefulness for clinicians, researchers, and service providers.
The Developmental Behaviour Checklist for Adults (DBC-A) was the instrument used in a large-scale Australian study (n = 1,538) of emotional and behavioural disturbance.
To assist the field, normative data is now available on the DBC-A for adults with ID from age 18-85 years, across three levels of intellectual disability (ID).

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Feb
2012

Mowat-Wilson syndrome (MWS) is caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated the behavioral phenotype of MWS.

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Jun
2011

Mental disorder and intellectual disability each accounts for substantial burden of disease. However, the extent of this co-occurrence varies substantially between reports. We sought to determine whether studies in children and/or adolescents with acceptably rigorous methods can be distinguished from existing reports, and whether key risk factors could be ascertained.

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Nov
2011

High rates of conduct difficulties have been reported among children with borderline intellectual disabilities or intellectual disabilities. Little is known about predictors of the persistence of conduct difficulties in the pre-adolescent period in this high-risk group.
Secondary analysis of data from the first three waves of the Longitudinal Study of Australian Children.

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Nov
2011

Although elevated rates of parent psychosocial distress have been associated with child behavior and emotional problems, little is known about the nature of this relationship over time. This study followed an epidemiological cohort of children and adolescents over 11 years with 4 waves of data collection. Within this cohort, complete data were available on 238 mothers and their children.

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Nov
2011

Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of this study was to explore systematically the relation between behavioral problems and age groups, genetic subtypes and BMI categories in an adult PWS population.

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Apr
2010

Studies have found differences in the nature and severity of social problems experienced by children with different subtypes of attention deficit hyperactivity disorder (ADHD). Given that play is often the context for acquiring social skills, there is surprisingly limited research examining whether these differences distinguish the play of children within the groups.
Using the Test of Playfulness (ToP), we examined the similarities and differences in play between children (aged 5-11 years) diagnosed with the three DSM-IV ADHD subtypes: inattentive (I-subtype; n=46), hyperactive-impulsive (HI-subtype; n=28) and combined subtypes (C-subtype; n=31).

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Oct
2009

The importance of play in the social development of children is undisputed. Even though children with attention-deficit hyperactivity disorder (ADHD) experience serious social problems, there is limited research on their play. By integrating literature on ADHD with literature on play, we can postulate how play is influenced by the characteristics of ADHD.

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Apr
2010

The aim of this study was to examine the feasibility of using routine public mental health outcome data to measure the effectiveness of a non government organization (NGO), specifically Pioneer Clubhouse.
We retrieved data from the NSW Mental Health Outcomes and Assessment Tools (MH-OAT) database, for 31 participants who joined Pioneer Clubhouse, NSW, in 2007. Data were also sought for 31 matched control participants from within the same Area Health Service.

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