Lessons learned from a pediatric powered mobility lending program.

Purpose: To evaluate children's characteristics and impact of a powered wheelchair lending program including comparisons of diagnostic sub-groups, and validation of a predictive model of powered mobility proficiency.

Methods And Materials: This retrospective study included 172 children who participated in the ALYN powered mobility lending program from 3/2009-7/2022. Demographics and functional levels were measured questionnaires; driving proficiency was evaluated when the wheelchair was returned, and parents and children were interviewed following their participation in the program.

Reducing fracture incidence in children with osteogenesis imperfecta: contribution of orthotics to bisphosphonates treatment.

Purpose: To determine whether there was a reduction in fracture incidence amongst children with OI who were treated with both bisphosphonates and orthoses.

Objective: Was there an additional reduction in fracture incidence amongst children with Osteogenesis Imperfecta (OI) treated with both bisphosphonates and Hip-Knee-Ankle-Foot-Orthosis (HKAFO)?

Materials And Methods: Of the 129 OI patients treated from 1990 to 2017, retrospective data from 48 patients who participated in the bisphosphonates-orthosis regime were analyzed including the incidence of fractures and modalities of fracture treatment.

Results: Bisphosphonates usage was more frequent than bracing and there were more positive changes (smaller or equal number of fractures each year) than negative changes (more fractures each year); negative changes were scarce, explained by non-compliance with the use of bracing.

Pediatric powered mobility training: powered wheelchair versus simulator-based practice.

Method: Participants included 30 children and adolescents (23 males, 13 females) with cerebral palsy and other neuromuscular diseases, aged 6-18. Data were collected and compared at baseline and after 12 weeks of home-based practice via a powered wheelchair or a simulator. Powered mobility ability was determined by the Powered Mobility Program (PMP), the Israel Ministry of Health's Powered Mobility Proficiency Test (PM-PT) and the Assessment of Learning Powered Mobility (ALP).

Reliability and validity of pediatric powered mobility outcome measures.

Purpose: To determine the intra-rater and inter-rater reliability of the Powered Mobility Program (PMP) and the Israel Ministry of Health Powered Mobility Proficiency Test (PM-PT); to test inter-rater reliability of the Assessment of Learning Powered Mobility (ALP) tool; to determine the convergent validity of these measures for children with physical disabilities.

Materials And Methods: Participants included 30 children (mean 10 years, 6 months [SD 3 years, 7 months]; range: 6-18 years) with cerebral palsy and other neuromuscular disorders. Participants were non-proficient powered wheelchair drivers.

Age at Onset of Parkinson's Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.

Background: Both genetic and environmental factors contribute to Parkinson's disease (PD) risk.

Objective: We investigated the potential association of several relevant variables with PD age at onset (AAO), focusing on LRRK2 p.G2019S and GBA p.

Comparing children's driving abilities in physical and virtual environments.

Purpose: To compare children's driving abilities in a physical and virtual environment and to validate the McGill Immersive Wheelchair Simulator (MiWe-C) for the use of children with disabilities.

Materials And Methods: Participants included 30 children (17 males, 13 females; mean age 14 y 1 mo, [SD 3 y 6 mo]; range: 5-18 y) with cerebral palsy, neuromuscular disease and spinal cord injury. All children were proficient drivers with more than 3 months' experience, who had their own powered wheelchairs.

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is gaining attention, but the reported diagnostic yield is variable. In this study, we describe a tertiary center's experience with fetal WES from both terminated and ongoing pregnancies, and examine the clinical factors affecting the diagnostic rate.

Predictive model of proficiency in powered mobility of children and young adults with motor impairments.

Aim: To identify variables that can predict proficiency in powered mobility use for children in young adults.

Method: Participants included 80 children and young adults (42 males, 38 females; mean age 10y 2mo, [SD 5y 1mo]; range: 2-22y) with cerebral palsy, neuromuscular disease, and spinal cord injury who participated in the ALYN Hospital Powered Mobility Lending Program from 2009 to 2016. Data were collected and compared before and after participation in the program and powered mobility levels were determined by the Israeli Ministry of Health (MOH) Powered Mobility Proficiency Test.

An exploratory study of parent-child association in sensory modulation disorder involving ADHD-related symptoms.

Background: Sensory modulation disorder (SMD) and attention deficit hyperactivity disorder (ADHD) can co-occur and have overlapping symptoms, thus challenging practitioners. This study aimed to phenotypically explore parent-child associations in SMD, and the interplay between SMD- and ADHD-related symptoms in children with SMD and their parents.

Methods: A cross-sectional study examined 70 parents (n = 35 mothers; n = 35 fathers) and their 35 children with and without SMD, aged 4-6 years.

Effectiveness of Modified Constraint-Induced Movement Therapy Compared With Bimanual Therapy Home Programs for Infants With Hemiplegia: A Randomized Controlled Trial.

Objective: We examined the effectiveness of modified constraint-induced movement therapy (mCIMT) in treating infants with hemiplegic cerebral palsy and compared therapy outcomes with a nonconstraining bimanual therapy (BIM) of equal intensity.

Method: In a single-blinded randomized controlled trial, 33 infants with hemiplegia (mean corrected age = 11.1 mo, standard deviation = 2.

The role of exposure to pesticides in the etiology of Parkinson's disease: a F-DOPA positron emission tomography study.

Susceptibility to Parkinson's disease (PD) is believed to involve an interaction between genetic and environmental factors. The role of pesticides as a risk factor of PD and neurodegeneration remains controversial. An asymmetric decrease in ligand uptake on F-DOPA positron emission tomography (PET), especially in the dorsal putamen, is a sensitive marker of PD.

Brain Lesions as a Predictor of Therapeutic Outcomes of Hand Function in Infants With Unilateral Cerebral Palsy.

Aim: The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions.

Method: Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2.

Can early dopamine transporter imaging serve as a predictor of Parkinson's disease progression and late motor complications?

Background: The role of nuclear imaging in predicting Parkinson's disease (PD) progression is unclear. This study investigated whether the degree of reduced striatal dopamine transporter binding at diagnosis of PD predicts later motor complications and time to disease progression.

Methods: We retrospectively studied 41 patients with early PD who underwent I-FP-CIT SPECT and were followed thereafter with a mean disease duration of 9.

Repetitive Deep TMS for Parkinson Disease: A 3-Month Double-Blind, Randomized Sham-Controlled Study.

Purpose: To study the effects of a repetitive deep transcranial magnetic stimulation (rDTMS) in patients with Parkinson disease using the H5 coil for the low-frequency stimulation of the primary motor cortex, followed by the high-frequency rDTMS of the prefrontal cortex.

Methods: The main outcome measures were the total and motor scores of the Unified Parkinson's Disease Rating Scale (UPDRS). Secondary measures included rating of depression and quantitative motor tasks.

Decoding emotion of the other differs among schizophrenia patients and schizoaffective patients: A pilot study.

The deficit in ability to attribute mental states such as thoughts, beliefs, and intentions of another person is a key component in the functional impairment of social cognition in schizophrenia. In the current study, we compared the ability of persons with first episode schizophrenia (FE-SZ) and individuals with schizophrenia displaying symptomatic remission (SZ-CR) to decode the mental state of others with healthy individuals and schizoaffective patients. In addition, we analyzed the effect of dopamine-related genes polymorphism on the ability to decode the mental state of another, and searched for different genetic signatures.

Is a family-centred initiative a family-centred service? A case of a Conductive Education setting for children with cerebral palsy.

Background: From the moment a child is diagnosed as having cerebral palsy, families have to cope on a daily basis with the multifaceted challenges of life-long disability management. Family-centred service is embraced as a 'best practice' model because of accumulating evidence supporting its positive influence on parents and children's outcomes. Nevertheless, research comparing parent and provider perspectives on family-centred practices of educational service providers in education settings is scarce.

Repetitive deep transcranial magnetic stimulation for motor symptoms in Parkinson's disease: A feasibility study.

Objectives: Repetitive transcranial magnetic stimulation (rTMS), using standard coils, provided modest symptomatic benefits in patients with Parkinson's disease (PD). In our previous exploratory studies, using the newly developed Hesed coil (providing deeper rTMS; rDTMS) high frequency (HF), excitatory rDTMS over the primary motor cortex (M1), did not achieve sufficient beneficial effect for PD symptoms, while low frequency (LF) inhibitory stimulation, was mildly beneficial. To further investigate the optimal rDTMS stimulation parameters for PD patients, and to assess whether there is an added value for dual stimulation, consisting of HF rDTMS over the prefrontal cortex (PFC) along with LF M1 rDTMS.

Perspective: Identification of genetic variants associated with dopaminergic compensatory mechanisms in early Parkinson's disease.

Parkinson's disease (PD) is slowly progressive, and heterogeneity of its severity among individuals may be due to endogenous mechanisms that counterbalance the striatal dopamine loss. In this perspective paper, we introduce a neuroimaging-genetic approach to identify genetic variants, which may contribute to this compensation. First, we briefly review current known potential compensatory mechanisms for premotor and early disease PD, located in the striatum and other brain regions.

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.

Background: Smoking is a well documented environmental factor that reduces susceptibility to Parkinson's disease (PD). Several genetic variants within the nicotinic cholinergic receptor gene cluster, CHRNA5-CHRNA3-CHRNB4 have been reported to be associated with nicotine dependence (ND), and this association has been validated in multiple studies.

Objectives: Due to the inverse correlation between smoking and PD susceptibility, we investigated whether ND-related genetic variants are associated with age at onset (AAO) of PD among smokers.

Involvement of PTPN5, the gene encoding the striatal-enriched protein tyrosine phosphatase, in schizophrenia and cognition.

Objective: Striatal-enriched protein tyrosine phosphatase (STEP) is a brain-specific member of the protein tyrosine phosphatase (PTP) family that has been implicated in learning and memory. In this study, we examined the association of the protein tyrosine phosphatase non-receptor 5 (PTPN5) gene, which encodes for STEP, with both schizophrenia and cognitive functioning in the Israeli Jewish population.

Methods: A schizophrenia (SZ) case-control study of 868 participants was carried out (286 patients and 582 controls).

Patient and caregiver perceptions of the social impact of advanced Parkinson's disease and dyskinesias.

Parkinson's disease (PD) exacts a physical and emotional toll on both patients and family. The aim of this study was to compare patient and caregiver perceptions of the social consequences of basic symptoms of PD and levodopa-induced dyskinesias. Forty patients with PD and dyskinesias and 35 of their caregivers completed a self-report questionnaire on the impact of PD and dyskinesias on their feelings of security and embarrassment and participation in family/social events, and indicated their preference for the "on" (with dyskinesias) or the "off" (without dyskinesias) state.

Oxytocin and vasopressin genes are significantly associated with schizophrenia in a large Arab-Israeli pedigree.

We have previously studied the genetics of schizophrenia in a large inbred Arab-Israeli pedigree and found evidence for linkage on chromosome 20p13. This locus harbours four strong candidate genes for schizophrenia: atractin (ATRN), pantonate-kinase2 (PANK2), oxytocin (OXT) and arginine-vasopressin (AVP). In this study we further explored the association of these genes with schizophrenia in the pedigree and searched for the disease-causing variants.