Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, and various musculoskeletal disorders. Scoliosis is a common feature. The aim of this study is to fill the gap in the current knowledge about scoliosis in individuals with KdVS and to provide recommendations for management and follow-up.

Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.

Context: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk.

The course of skull deformation from birth to 5 years of age: a prospective cohort study.

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.

Is Motor Performance in 5.5-Year-Old Children Associated with the Presence of Generalized Joint Hypermobility?

Objective: To determine the prevalence of generalized joint hypermobility (GJH) in Dutch children aged 5.5 years, and to examine the association between GJH and motor performance and development over time.

Study Design: A prospective cohort of 249 children was recruited.

Insufficient vitamin D supplement use during pregnancy and early childhood: a risk factor for positional skull deformation.

Vitamin D insufficiency during pregnancy is associated with disturbed skeletal homeostasis during infancy. Our aim was to investigate the influence of adherence to recommendations for vitamin D supplement intake of 10 μg per day (400 IU) during pregnancy (mother) and in the first months of life (child) on the occurrence of positional skull deformation of the child at the age of 2 to 4 months. In an observational case-control study, two hundred seventy-five 2- to 4-month-old cases with positional skull deformation were compared with 548 matched controls.

Response to pediatric physical therapy in infants with positional preference and skull deformation.

Background: 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.

Helmet therapy in infants with positional skull deformation: randomised controlled trial.

Objective: To determine the effectiveness of helmet therapy for positional skull deformation compared with the natural course of the condition in infants aged 5-6 months.

Design: Pragmatic, single blinded, randomised controlled trial (HEADS, HElmet therapy Assessment in Deformed Skulls) nested in a prospective cohort study.

Setting: 29 paediatric physiotherapy practices; helmet therapy was administered at four specialised centres.

Functional, motor developmental, and long-term outcome after the component separation technique in children with giant omphalocele: a case control study.

Background/purpose: The objective of this study was to evaluate the long-term functional and motor development and abdominal muscle quantity in children operated on for giant omphalocele (GOC) with the Component Separation Technique (CST).

Methods: Between 2004 and 2007, CST was applied in eleven consecutive infants with GOC. Eight underwent ultrasound of the abdominal wall and muscles, assessment of functional and motor development using the Movement Assessment Battery for Children, 2nd Edition (M-ABC-2), and an observational physical examination focused on possible abnormalities in stature and movements related to GOC.

Objective evaluation of muscle strength in infants with hypotonia and muscle weakness.

The clinical evaluation of an infant with motor delay, muscle weakness, and/or hypotonia would improve considerably if muscle strength could be measured objectively and normal reference values were available. The authors developed a method to measure muscle strength in infants and tested 81 typically developing infants, 6-36 months of age, and 17 infants with Prader-Willi Syndrome (PWS) aged 24 months. The inter-rater reliability of the measurement method was good (ICC=.

HElmet therapy Assessment in infants with Deformed Skulls (HEADS): protocol for a randomised controlled trial.

Background: In The Netherlands, helmet therapy is a commonly used treatment in infants with skull deformation (deformational plagiocephaly or deformational brachycephaly). However, evidence of the effectiveness of this treatment remains lacking. The HEADS study (HElmet therapy Assessment in Deformed Skulls) aims to determine the effects and costs of helmet therapy compared to no helmet therapy in infants with moderate to severe skull deformation.

The effect of growth hormone treatment or physical training on motor performance in Prader-Willi syndrome: a systematic review.

Although motor problems in Prader-Willi syndrome (PWS) are prominent in infants, and continue into childhood and adulthood, there is little insight into the factors important for clinical management. The literature was reviewed to: (1) provide an overview of the characteristics and prevalence of motor problems and (2) evaluate the effects of growth hormone (GH) treatment and physical training on motor performance. A systematic search revealed 34 papers: 13 on motor performance; 12 on GH treatment; and nine on physical training.

Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning.

Motor problems in Prader-Willi syndrome (PWS) are presumably related to abnormal body composition and certain neuromuscular abnormalities. The authors reviewed the literature to evaluate the extent to which body composition is affected and gathered all findings on neuromuscular functioning in PWS. A systematic review was conducted in four databases (1956-2010).

Effect of pediatric physical therapy on deformational plagiocephaly in children with positional preference: a randomized controlled trial.

Objective: To study the effect of pediatric physical therapy on positional preference and deformational plagiocephaly.

Design: Randomized controlled trial.

Setting: Bernhoven Hospital, Veghel, the Netherlands.

Validation of a simple method for measuring cranial deformities (plagiocephalometry).

Craniofacial measuring is essential for diagnosis or evaluation of growth and therapies. Skull deformities in children are mainly caused by craniosynostosis or by external pressure in positional skull deformations. Traditional anthropometry does not sufficiently analyze craniofacial shape.

Risk factors for deformational plagiocephaly at birth and at 7 weeks of age: a prospective cohort study.

Objective: The purpose of this work was to identify risk factors for deformational plagiocephaly within 48 hours of birth and at 7 weeks of age.

Patients And Methods: This was a prospective cohort study in which 380 healthy neonates born at term in Bernhoven Hospital in Veghel were followed at birth and at 7 weeks of age. Data regarding obstetrics, sociodemographics, asymmetry of the skull, anthropometrics, motor development, positioning, and care factors related to potentially provoking deformational plagiocephaly were gathered, with special interest for putative risk factors.

Plagiocephalometry: a non-invasive method to quantify asymmetry of the skull; a reliability study.

Unlabelled: Deformational plagiocephaly (DP) in newborns and very young children is a common problem in daily practice. The intrarater and interrater reliability of plagiocephalometry (PCM), a new, non-invasive, inexpensive instrument to assess and quantify the asymmetry of the skull, is evaluated at the outpatient Department of Physical Therapy of the Bernhoven Hospital at Veghel, The Netherlands. Using a thermoplastic material to mould the outline of the infant's skull, a reproduction of the skull shape is performed on paper, allowing for accurate cephalometric measurements.

Diagnostic strategies for the evaluation of asymmetry in infancy-a review.

Unlabelled: Asymmetry in infancy is a diagnosis with a large spectrum of features, expressing an abnormal shape of parts of the body or unequal postures and movements. Symptoms may be structural and/or functional, with localised or generalised expression. Within the last decade, many professionals have focused on the adverse consequences on motor performance of infants, associated with the recommendations on the prevention of sudden infant death.