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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Evaluation of the Fetal Alcohol Spectrum Disorder Hub Australia website

To evaluate use and utility of the Fetal Alcohol Spectrum Disorder (FASD) Hub Australia website. 

‘I have to jump like a kangaroo … I have to slither like a snake’. A qualitative evaluation of elder-led art workshops in the child protection sector

Indigenous peoples globally have incurred significant harm resulting from colonisation and the forced removal of children from their families, culture, communities and Country. Over the last two decades in Australia, there have been calls for significant reform and there has been a raft of policy changes in child protection services. However the problems are intractable, and the numbers of Indigenous children being removed from their families continues to rise.

Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study

Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

Intrafamilial Maltreatment of People with Intellectual Disability: A Scoping Review

People with intellectual disability experience a greater risk of maltreatment than people without intellectual disability. Maltreatment by family members presents additional risks, including greater possibilities for concealment. This scoping reviewResults were summarized in both narrative and tabular formats summarizes extant knowledge about the familial maltreatment of people with intellectual disability and identifies gaps in the literature.

Prevalence of attention deficit hyperactivity disorder/hyperkinetic disorder of pediatric and adult populations in clinical settings: a systematic review, meta-analysis and meta-regression

Attention-Deficit/Hyperactivity Disorder (ADHD)/Hyperkinetic Disorder (HD) is linked to increased risks of morbidity, comorbidity and mortality, with higher prevalence in clinical populations. The differential prevalence of ADHD/HD across adult and pediatric clinical populations, influenced by factors such as time trends, sex, age, geographic regions, and comorbidities, has not been systematically assessed.

Who suffered most? Parental stress and mental health during the COVID-19 pandemic in Germany

This study examines gender and socioeconomic inequalities in parental psychological wellbeing (parenting stress and psychological distress) during the COVID-19 pandemic in Germany. Background: The dramatic shift of childcare and schooling responsibility from formal institutions to private households during the pandemic has put families under enormous stress and raised concerns about caregivers’ health and wellbeing.

“Broken fragments or a breathtaking mosaic”: A mixed methods study of self-reported attributes and aspirations of siblings of individuals with and without neurodevelopmental conditions

Siblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.