Publications by authors named "Maaike Pelsma"
Background And Objectives: Facioscapulohumeral dystrophy (FSHD) is an inherited muscle disorder, with childhood onset in 20% of patients. Understanding the natural history of childhood FSHD and identifying clinical and functional outcome measures are crucial for clinical care and future trials.
Methods: In a prospective nationwide FSHD cohort study (iFocus), 20 childhood-onset patients were assessed at baseline, 2 years, and 5 years.
Aim: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.
Method: Twelve females with early-onset dystrophinopathy were followed for a median period of more than 17 years (range 1-36).
Results: One patient died owing to end-stage cardiac failure.
Background And Objectives: Data on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children.
Methods: We performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up.
Unlabelled: In a continuation of a prospective longitudinal cohort study in a healthy population on the course of skull shape from birth to 24 months, at 5 years of age, 248 children participated in a follow-up assessment using plagiocephalometry (ODDI-oblique diameter difference index, CPI-cranio proportional index). Data from the original study sampled at birth, 7 weeks, 6, 12, and 24 months were used in two linear mixed models.
Main Findings: (1) if deformational plagiocephaly (ODDI <104%) and/or positional preference at 7 weeks of age are absent, normal skull shape can be predicted at 5 years of age; (2) if positional preference occurs, ODDI is the highest at 7 weeks and decreases to a stable lowest value at 2 and 5 years of age; and (3) regarding brachycephaly, all children showed the highest CPI at 6 months of age with a gradual decrease over time.
Background: Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an early onset (onset before 10 years of age) and are traditionally classified as infantile FSHD.
View Article and Find Full Text PDFBackground: Pediatric physical therapy seems to reduce skull deformation in infants with positional preference. However, not all infants show improvement.
Objective: The study objective was to determine which infant and parent characteristics were related to responses to pediatric physical therapy in infants who were 2 to 4 months old and had positional preference, skull deformation, or both.