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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. 

Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process

Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.

Quantification of Helicobacter pylori and its oncoproteins in the oral cavity: A cross-sectional study

To identify Helicobacter pylori and related oncogenic and virulent proteins in patients with gingivitis, periodontitis, oral cancer and gastric cancer.

COVID-19 and Behavioral Sciences

Citation: Jackson T, Steed L, Pedruzzi R, Beyene K, Chan AHY. Editorial: COVID-19 and Behavioral Sciences. Front Public Health. 2022;9. Keywords:

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines.

The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.

The longitudinal relationship between BOLD signal variability changes and white matter maturation during early childhood

Intra-individual transient temporal fluctuations in brain signal, as measured by fMRI blood oxygenation level dependent (BOLD) variability, is increasingly considered an important signal rather than measurement noise.

Investigating associations between birth order and autism diagnostic phenotypes

Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order.

Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.