The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.

Introduction: Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments.

Methods: In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry.

Cognitive outcomes in children and adolescents born very preterm: a meta-analysis.

Aim: To estimate the association between very preterm birth (<32wks' gestation) and intelligence, executive functioning, and processing speed throughout childhood and adolescence, and to examine the effects of gestational age, birthweight, and age at assessment.

Method: Studies were included if children were born at earlier than 32 weeks' gestation, aged 4 to 17 years, had an age-matched term control group, and if the studies used standardized measures, were published in an English-language peer-reviewed journal, and placed no restrictions on participants based on task performance.

Results: We evaluated 6163 children born very preterm and 5471 term-born controls from 60 studies.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Purpose Of Review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.

Symptoms of depression, anxiety, and stress in parents of young children with epilepsy: A case controlled population-based study.

The objective was to provide population-based data on depression, anxiety, and stress in parents of young children with epilepsy and to compare findings with those of parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The parents (mothers and fathers) of 47 (89% ascertainment) young children (1-7years) with epilepsy in a defined geographical area of the UK completed the Depression Anxiety Stress Scales - Short Form (DASS-21), a screening measure for depression, anxiety, and stress. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n=48).

Dysfunction among Families of Children with Intellectual Disability in India Using Systems Model: Prevalence, Pattern, and Severity of Impairment.

Objectives: Family dysfunction is observed in families with children with intellectual disability (ID). We study the prevalence, pattern of dysfunction, and severity of impairment in these special families using Systems approach.

Methods: Sixty-two special families (a child with ID) and 62 typical families (all children with typical development) were included in the present study.

The Confirmatory Factor Analysis of the Original Brief Intellectual Disability Scale and Alternative Models.

Objective: Brief Intellectual Disability Scale (BIDS) is a measure validated for identification of children with intellectual disabilities (IDs) in countries with low disability resources. Following the publication of the exploratory factor analysis of BIDS, the authors have documented the confirmatory factor analysis (CFA) of BIDS in this study.

Materials And Methods: A prospective cross-sectional study was conducted to document the CFA of the BIDS.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described.

Trauma exposure in children with and without ADHD: prevalence and functional impairment in a community-based study of 6-8-year-old Australian children.

Both ADHD and trauma exposure are common childhood problems, but there are few empirical data regarding the association between the two conditions. The aims of this study were to compare lifetime prevalence of trauma exposure in children with and without ADHD, and to explore the association between trauma exposure and outcomes in children with ADHD. Children aged 6-8 years with ADHD (n = 179) and controls (n = 212) recruited from 43 schools were assessed for ADHD, trauma exposure and comorbid mental health disorders using the Diagnostic Interview Schedule for Children IV.

PUFA Status and Methylmercury Exposure Are Not Associated with Leukocyte Telomere Length in Mothers or Their Children in the Seychelles Child Development Study.

Leukocyte telomere length (TL) is associated with age-related diseases and early mortality, but there is a lack of data on the determinants of TL in early life. Evidence suggests that dietary intake of marine n-3 (ω-3) polyunsaturated fatty acids (PUFAs) is protective of telomere attrition, yet the effect of methylmercury exposure, also found in fish, on TL is unknown. The aim of this study was to investigate the associations between prenatal PUFA status, methylmercury exposure, and TL in mothers and children in the SCDS (Seychelles Child Development Study), for whom fish consumption is high.

De novo variant is associated with decreased mitochondrial respiratory chain activities.

Objective: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder.

Methods: A case report including diagnostic workup, whole-exome sequencing of the affected patient, filtering, and prioritization of candidate variants assuming a suspected autosomal recessive mitochondrial disorder and segregation studies.

Results: After excluding candidate variants for an autosomal recessive mitochondrial disorder, re-evaluation of rare and novel heterozygous variants identified a recently reported, recurrent pathogenic heterozygous missense change (c.

Post-traumatic seizure with an unexpected finding.

A 5-year-old boy of non-consanguineous Indian descent presented to the emergency department (ED) following a prolonged seizure, preceded by a minor head injury from a low-level unwitnessed fall. The seizure was described as focal with head and neck version to the right. There was urinary and faecal incontinence and foaming at the mouth.

Effect of walking in footwear with varying heel sole differentials on shank and foot segment kinematics.

Background: When walking in footwear with a positive "heel sole differential", the sagittal kinematics of the base of the footwear appear to mimic normal barefoot foot kinematics, creating an "effective foot," yet sagittal shank, thigh, and trunk kinematics appear to remain unchanged. These observations have not been quantified.

Objectives: To quantify these observations by assessing the effect of different heel sole differentials on sagittal shank and foot segment kinematics of able-bodied walking.

Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development.

The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4, coupled with prenatal stress is reported to increase the risk for children to develop autism spectrum disorder (ASD). Similarly, maternal Slc6a4 knock-out and prenatal stress in rodents results in offspring demonstrating ASD-like characteristics. The present study uses an integrative genomics approach to explore mechanistic changes in early brain development in mouse embryos exposed to this maternal gene-environment phenomenon.

Contralateral Associated Movements Correlate with Poorer Inhibitory Control, Attention and Visual Perception in Preschool Children.

Contralateral associated movements (CAMs) frequently occur in complex motor tasks. We investigated whether and to what extent CAMs are associated with inhibitory control among preschool children in the Swiss Preschoolers' Health Study. Participants were 476 healthy, typically developing children (mean age = 3.

Tablet computers versus optical aids to support education and learning in children and young people with low vision: protocol for a pilot randomised controlled trial, CREATE (Children Reading with Electronic Assistance To Educate).

Introduction: Low vision and blindness adversely affect education and independence of children and young people. New 'assistive' technologies such as tablet computers can display text in enlarged font, read text out to the user, allow speech input and conversion into typed text, offer document and spreadsheet processing and give access to wide sources of information such as the internet. Research on these devices in low vision has been limited to case series.

Consensus Statement of the Indian Academy of Pediatrics on Newborn Hearing Screening.

Justification: Hearing impairment is one of the most critical sensory impairments with significant social and psychological consequences. Evidence-based, standardized national guidelines are needed for professionals to screen for hearing impairment during the neonatal period.

Process: The meeting on formulation of national consensus guidelines on developmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015.

Maternal sensitivity and social support protect against childhood atopic dermatitis.

Background: Many studies have identified associations between qualities of maternal-child relationships and childhood asthma, but few have examined associations with childhood atopic dermatitis (AD), a common precursor to asthma. Moreover, maternal psychological distress, including prenatal and postnatal depression, anxiety and stress, may increase risk, while social support from partners may reduce risk for childhood AD. We sought to uncover the association between maternal-infant relationship qualities (maternal sensitivity towards infant behavioral signals, controlling behavior, and unresponsiveness) and child AD after accounting for risk (i.

Placebo by Proxy in Neonatal Randomized Controlled Trials: Does It Matter?

Placebo effects emerging from the expectations of relatives, also known as placebo by proxy, have seldom been explored. The aim of this study was to investigate whether in a randomized controlled trial (RCT) there is a clinically relevant difference in long-term outcome between very preterm infants whose parents assume that verum (PAV) had been administered and very preterm infants whose parents assume that placebo (PAP) had been administered. The difference between the PAV and PAP infants with respect to the primary outcome-IQ at 5 years of age-was considered clinically irrelevant if the confidence interval (CI) for the mean difference resided within our pre-specified ±5-point equivalence margins.

Impact of age, sex, socioeconomic status, and physical activity on associated movements and motor speed in preschool children.

Introduction: Young children generally show contralateral associated movements (CAMs) when they are making an effort to perform a unimanual task. CAM and motor speed are two relevant aspects of motor proficiency in young children. These CAMs decrease over age, while motor speed increases.

CYP3A genes and the association between prenatal methylmercury exposure and neurodevelopment.

Background: Results on the association between prenatal exposure to methylmercury (MeHg) and child neuropsychological development are heterogeneous. Underlying genetic differences across study populations could contribute to this varied response to MeHg. Studies in Drosophila have identified the cytochrome p450 3A (CYP3A) family as candidate MeHg susceptibility genes.

Do children with neurological disabilities use more inpatient resources: an observational study.

Background: Advances in healthcare have improved the survival of children with neurological disabilities (ND). Studies in the US have shown that children with ND use a substantial proportion of resources in children's hospitals, however, little research has been conducted in the UK. We aimed to test the hypothesis that children with neurological disabilities use more inpatient resources than children without neurological disabilities, and to quantify any significant differences in resource use.

Consensus Statement of the Indian Academy of Pediatrics on Evaluation and Management of Learning Disability.

Justification: Learning Disability (LD) in children is a well-recognized developmental disorder, which has profound academic and psychosocial consequences. Due to the complex nature of LD and multiple disadvantages posed to the child due to LD, a multidisciplinary approach towards intervention is warranted. Given the paucity of evidence-based standardized treatment approaches, consensus guidelines for management of LD are needed.

Consensus Statement of the Indian Academy of Pediatrics on Evaluation and Management of Autism Spectrum Disorder.

Justification: Autism Spectrum Disorder (ASD) is a clinically heterogenous condition with a wide range of etiological factors and causing significant public health burden. ASD poses a serious developmental disadvantage to the child in the form of poor schooling, social function and adult productivity. Thus, framing evidence-based national guidelines is a pressing need.

Consensus Statement of the Indian Academy of Pediatrics on Evaluation and Management of Attention Deficit Hyperactivity Disorder.

Justification: Attention-Deficit/Hyperactivity Disorder (ADHD) is highly prevalent in children worldwide. Management of ADHD requires a systematic, multidisciplinary approach and therefore evidence-based, standardized national guidelines are essential.

Process: A meeting for formulation of national consensus guidelines on neurodevelopmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015.