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Showing results for "autism"
Research
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.
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Nurturing families: One year pilot outcomes for a modified Parent Child Assistance Program in AustraliaAlcohol and Other Drug (AOD) exposure during pregnancy is linked to serious adverse child outcomes, including Fetal Alcohol Spectrum Disorder. The Parent-Child Assistance Program (PCAP) supports women with problematic AOD use, who are pregnant or have young children, and are not effectively engaging with services. PCAP has been shown to reduce alcohol exposed pregnancies, promote AOD abstinence, increase employment and family planning and improve child outcomes.
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Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular DisordersNeuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.
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How Caregivers Support Children’s Emotion Regulation: Construct Validation of the Parental Assistance With Child Emotion Regulation (PACER) QuestionnaireCaregivers play a crucial role in supporting the development of their children's emotion regulation. This study validated the Parental Assistance with Child Emotion Regulation (PACER) Questionnaire in a sample of 491 caregivers of young children ≤ 5 years.
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The oral and written narrative language skills of adolescent students in youth detention and the impact of language disorderUnmet language and literacy needs are common among young people who are involved with youth justice systems. However, there is limited research regarding the functional text-level language skills of this population with regard to narrative macrostructure (story grammar) and microstructure (semantics and syntax) elements. In this study, we examined macrostructure and microstructure elements in the oral and written narrative texts of 24 adolescent students of a youth detention centre. The students, who were aged 14- to 17- years, were all speakers of Standard Australian English, and 11 (46%) students met criteria for language disorder (LD).
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Exploring enablers and barriers to accessing health services after a fall among people with intellectual disabilityThere is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability
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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
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The feasibility of a digital health approach to facilitate remote dental screening among preschool children during COVID-19 and social restrictionsTele-dentistry can be useful to facilitate screening of children, especially those living in rural and remote communities, and during the COVID-19 pandemic. This study evaluated the feasibility of tele-dental screening for the identification of early childhood caries (ECC) in preschoolers using an app operated by their parents with remote review by oral-health therapists.
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Employing cognitive interviewing to evaluate, improve and validate items for measuring the health-related quality of life of women diagnosed with ovarian cancerUse of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes.