The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.

Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS).

Scoliosis in RETT Syndrome: A National Referral Centre Experience.

Study Design: This was a retrospective case series.

Objective: The objective of this study was to discuss the treatment challenges in scoliosis patients with Rett syndrome (RTT) in a national referral centre for RTT. We describe structural characteristics of curves, age of onset, genetic mutation, ambulation status, and treatment through RTT progression.

Motoric cognitive risk syndrome in people with multiple sclerosis: prevalence and correlations with disease-related factors.

Background: The motoric cognitive risk (MCR) syndrome, defined as the coexistence of slow gait and subjective cognitive complaints, has as yet not been researched in people with multiple sclerosis (pwMS).

Objective: To examine the prevalence of the MCR syndrome in pwMS and its association with disability, disease duration, perceived fatigue, and fear of falling.

Methods: The study comprised 618 pwMS [43.

Treatment of Septic Arthritis of the Hip Joint Using Repeated Aspirations: When Should We Operate?

Background: The well-accepted treatment of septic arthritis of the hip joint (SAHJ) is surgical drainage of the joint, but repeated aspirations of the hip joint under sonography, have been used for over twenty years with significant success in some centers, including ours. In recent years, we identified some children who did not respond to aspirations and had to undergo arthrotomies. We were concerned that some children may have reached the operating room after a longer than ideal time.

Longitudinal relationships between disability and gait characteristics in people with MS.

Longitudinal data are vital in order to understand intra individual gait changes with the progression of multiple sclerosis (MS). Therefore, the primary aim of this study was to explore the relationship between changes in disability with changes in major spatio-temporal parameters of gait in people with MS (PwMS). PwMS (n = 83) completed two gait assessments performed at separate time points (M1, M2).