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Showing results for "Childhood interstitial lung disease "
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
With improvement in leukemia therapy, central nervous system (CNS) tumors are the leading cause of cancer mortality in children and the most expensive...
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.
Young adults who are lesbian, gay, bisexual, trans, queer or questioning, intersex, asexual and other diverse genders and sexualities (LGBTQIA+) are more likely to experience mental health difficulties and are at significantly elevated risk of substance abuse, self-harm and suicide, relative to their heterosexual, endosex and cisgender peers. There is a need for effective mental health interventions for LGBTQIA+ young adults. Mindful Self-Compassion training is a promising approach; among LGBTQIA+ individuals, self-compassion accounts for more variation in mental health outcomes than bullying, victimization, and adverse childhood experiences combined. Furthermore, LGBTQIA+ individuals with high self-compassion report more positive identity and happiness, less self-stigma, and lower suicidality than those with low self-compassion.
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
Energy drinks (EDs) claim to boost mental performance, however, few studies have examined the prospective effects of EDs on mental health. This study examined longitudinal associations between ED use and mental health symptoms in young adults aged 20 years over a 2-year period.
MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk