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CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.
Evidence suggests that the earlier supports are provided to young Autistic children, the better the overall outcomes. Supports have typically only been available after an autism diagnosis but with increased knowledge about early developmental trajectories, clinical supports can now be offered prediagnosis for infants showing early autism features and/or those with a family history of autism.
This study aimed to (i) develop a decision tree to guide clinicians to use a core outcome set (COS) of chronic pain assessment tools specific to children and young people with cerebral palsy and (ii) pilot test the implementation of the decision tree and core set in clinical practice.
Adolescence is a period of rapid transformation when meeting targets for optimal diabetes care is often challenging due to competing life demands. For more than two decades a diabetes transition clinic in Sydney, Australia, has sustained positive outcomes and demonstrated aspects of resilience in the care of individuals living with type 1 diabetes (T1D) who have transitioned from paediatric to adult care. Many studies have focused on resilience in acute care setting showever, studies that examine the factors that support resilience in settings that care for individuals with long-term, chronic conditions such as T1D are lacking.
Current immunization guidelines recommend one dose of influenza vaccine for children aged ≥9 years and two doses for younger or vaccine-naïve children. However, children receiving chemotherapy have an attenuated immune response. We performed a prospective open-label study in children undergoing treatment for cancer at Perth Children's Hospital, Western Australia, to examine the safety and efficacy of a boosted influenza schedule.
We assessed the impact of maternally derived pertussis antibodies on infant responses to a 2 + 1 vaccine schedule (6 weeks, 12 weeks, and 12 months). Infants with baseline antibodies showed lower IgG responses following the primary vaccination series, but this did not impair booster responses at 4 years of age.
LiL' STEPS (Language development & Intervention Lab's SupporTing Early social-communication and language by Promoting caregiver Sensitive responsiveness) is a novel, manualized, caregiver-mediated early support program developed in India and delivered online for infants at elevated familial likelihood for autism. The program has been found to be feasible and acceptable. The preliminary efficacy of the LiL' STEPS program, which remains to be evaluated, was assessed in this study using a feasibility randomized controlled trial design.
ETV6::RUNX1 is one of the most common recurrent genomic abnormalities in acute lymphoblastic leukaemia (ALL) and is associated with a good prognosis. High expression of NTRK1, encoding tropomyosin receptor kinase A (TrkA), confers a poor prognosis in other malignancies and may contribute to therapy resistance in patients with ETV6::RUNX1 B-ALL.
Human milk bacteria contribute to gut microbiome establishment in breastfed infants. Although breastfeeding is recommended throughout infancy, temporal variation in the milk microbiome-particularly beyond solid food introduction-remains understudied. We analyzed 539 milk samples from 83 mother-infant dyads between 1 week and 12 months postpartum using full-length 16S rRNA gene sequencing.
Autistic children experience significantly higher rates of anxiety compared to nonautistic children. The precise relations between autism characteristics and anxiety symptoms remain unclear in this population. Previous work has explored associations at the domain level, which involve examining broad categories or clusters of symptoms, rather than the relationships between specific symptoms and/or individual characteristics. We addressed this gap by taking a network approach to understand the shared structure of autism characteristics and anxiety symptoms.