Fragile X syndrome (FXS), the leading heritable cause of intellectual disability, has a co-occurrence rate of autism spectrum disorder (ASD) estimated at ~60%. The onset and rates of motor development in FXS are slower relative to neurotypical development, and even more so in the context of co-occurring FXS + ASD. Extant evidence suggests these…

Children with Coloboma, Heart defects, Atresia choanae, Restricted growth, Genital hypoplasia, and Ear abnormalities (CHARGE) syndrome have many sensory impairments that can cause delays in motor development impacting physical activity, health, and quality of life. However, only one limited study has investigated motor competence in children with…

Children with CHARGE syndrome, an extremely complex, highly variable genetic disorder, are significantly delayed in the onset of their motor milestones in comparison with children without disabilities due to sensory and motor deficits as well as lengthy hospitalizations and reduced physical activity. Currently, the role of parents' perceptions and…

This study examined parents' perceptions of constraints that impact the attainment of independent walking in children with CHARGE syndrome. This syndrome is a multifaceted syndrome including a degree of vision and hearing loss at birth. The Dynamic Systems Theory (DST) was used as an ecological lens to provide insight into the complexity of issues…

Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental…

Background and Aims: Individuals with fragile X syndrome (FXS) characteristically struggle with language and communication throughout the life course, but there is limited research on the development of communication before 24 months. The purpose of this study is to describe the early communication of infants and toddlers with FXS using the…

Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessments. In this study, the administration and scoring of the Mullen Scales of Early Learning (MSEL) were adapted to eliminate the confounding effects of FM…

Purpose: The aim of this study was twofold: (a) to measure and compare motor proficiency in obese children with Prader-Willi syndrome (OB-PWS) to that in obese children without PWS (OB), and (b) to compare motor proficiency in OB-PWS and OB to normative data. Method: Motor proficiency was measured using the Bruininks-Oseretsky Test of Motor…

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the…

The present study focused on the mechanism subserving the production of kinematic patterns in 21 children with 22q11.2DS (mean age=9.6 [plus or minus] 1.9; mean FSIQ=73.05 [plus or minus] 10.2) and 21 age- and IQ-matched control children (mean age=9.6 [plus or minus] 1.9; mean FSIQ=73.38 [plus or minus] 12.0) when performing a visuo-manual…

Introduction: Children with CHARGE syndrome often experience significantly delayed motor development, which affects their performance in many motor skills and physical activities. The purpose of this study was to determine the status of physical education provided to children with CHARGE syndrome. There were five main areas of focus: (1) physical…

Background: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and…

Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…