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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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Systematic Review and Meta-analysis: Early Irritability as a Transdiagnostic Neurodevelopmental Vulnerability to Later Mental Health ProblemsIrritability is a transdiagnostic indicator of child and adolescent internalizing and externalizing problems that is measurable from early life. The objective of this systematic review was to determine the strength of the association between irritability measured from 0 to 5 years and later internalizing and externalizing problems, to identify mediators and moderators of these relationships, and to explore whether the strength of the association varied according to irritability operationalization.
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The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.
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The effects of JASPER intervention for children with autism spectrum disorder: A systematic reviewNaturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects.
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Discordant electroencephalogram epileptiform activity and hemispherectomy in children with refractory epilepsy and encephaloclastic lesions: a case seriesThis is a case series of six children with unilateral cerebral palsy and hemispheric encephaloclastic lesions who were evaluated for epilepsy surgery. Seizure onset was in the neonatal period in three children, at 17 months in two, and at 5 years in one.
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Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent DecadesImproved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
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Choice making in Rett syndrome: a descriptive study using video dataWe describe the choice-making abilities of girls and women with Rett syndrome.
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EEG power at 3 months in infants at high familial risk for autismReduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.