Practical Aspects of ASD Management-What Pediatricians Should Know.

The increasing prevalence of autism spectrum disorder (ASD) warrants higher levels of clinical attention to optimally manage children with ASD. There is mounting evidence that early intervention programs can help improve developmental functioning, maladaptive behaviors, and core ASD symptoms. The most thoroughly investigated and evidence-based therapies have been developmental, behavioral, and educational interventions mediated by either professionals or parents. Other commonly available interventions include speech and language therapy, occupational therapy, and social skills training. Pharmacological interventions, where needed, are used as an adjunct to treat severe problem behaviors and manage medical and psychiatric comorbidities. Complementary or alternative medicine (CAM) approaches have not proven to be of any benefit, and some of them may be harmful to the child. As the child's first point of contact, the pediatrician is well-positioned to effectively guide the families to therapies that are evidence-based and safe and also collaborate with various specialists to provide seamless, coordinated care for these children so as to improve their developmental outcomes and social functioning.

Trihexyphenidyl in young children with dystonic cerebral palsy: A single arm study.

PURPOSE: The incidence of dystonic cerebral palsy causing significant morbidity is on the rise. There is a paucity of evidence for the management of dystonia in children. METHODS: Forty-one children aged 6 months-5 years with predominantly dystonic cerebral palsy were started on a predetermined protocol of trihexyphenidyl (0.25-0.52 mg/kg) and followed up at 3, 6 and 12 weeks. Dystonia severity, motor function and developmental age at baseline and 12 weeks were compared using the Global Dystonia Scale (GDS), the Gross Motor Function Measure (GMFM), and Fine Motor/Perceptual Subscale of the Early Developmental Profile-2. Thirty-four children completed the entire 12 weeks of intervention. RESULTS: The mean age of participants was 25±11 months. A significant decrease in median total dystonia scores on the GDS was observed post-intervention (74.5 to 59, p < 0.0001), and 64% of participants gained motor milestones. GMFM scores increased significantly from a median of 19.8% pre-intervention to 26.5% post-intervention (p < 0.0001). There was improvement in the fine motor domain as compared to the baseline (p < 0.0001). The number of children classified at Gross Motor Function Classification System levels 1 and 2 increased to 47.05% from 5.88% in the pre-intervention group. CONCLUSION: Trihexyphenidyl significantly improved dystonia, motor function and development in children with dystonic cerebral palsy in this study. Additional studies are needed to clarify its role in larger numbers of children with this condition.

Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.

JUSTIFICATION: Global developmental delay (GDD) is a relatively common neurodevelopmental disorder; however, paucity of published literature and absence of uniform guidelines increases the complexity of clinical management of this condition. Hence, there is a need of practical guidelines for the pediatrician on the diagnosis and management of GDD, summarizing the available evidence, and filling in the gaps in existing knowledge and practices. PROCESS: Seven subcommittees of subject experts comprising of writing and expert group from among members of Indian Academy of Pediatrics (IAP) and its chapters of Neurology, Neurodevelopment Pediatrics and Growth Development and Behavioral Pediatrics were constituted, who reviewed literature, developed key questions and prepared the first draft on guidelines after multiple rounds of discussion. The guidelines were then discussed by the whole group in an online meeting. The points of contention were discussed and a general consensus was arrived at, after which final guidelines were drafted by the writing group and approved by all contributors. The guidelines were then approved by the Executive Board of IAP. Guidelines: GDD is defined as significant delay (at least 2 standard deviations below the mean with standardized developmental tests) in at least two developmental domains in children under 5 years of age; however, children whose delay can be explained primarily by motor issues or severe uncorrected visual/hearing impairment are excluded. Severity of GDD can be classified as mild, moderate, severe and profound on adaptive functioning. For all children, in addition to routine surveillance, developmental screening using standardized tools should be done at 9-12 months,18-24 months, and at school entry; whereas, for high risk infants, it should be done 6-monthly till 24 months and yearly till 5 years of age; in addition to once at school entry. All children, especially those diagnosed with GDD, should be screened for ASD at 18-24 months, and if screen negative, again at 3 years of age. It is recommended that investigations should always follow a careful history and examination to plan targeted testing and, vision and hearing screening should be done in all cases prior to standardized tests of development. Neuro-imaging, preferably magnetic resonance imaging of the brain, should be obtained when specific clinical indicators are present. Biochemical and metabolic investigations should be targeted towards identifying treatable conditions and genetic tests are recommended in presence of clinical suspicion of a genetic syndrome and/or in the absence of a clear etiology. Multidisciplinary intervention should be initiated soon after the delay is recognized even before a formal diagnosis is made, and early intervention for high risk infants should start in the nursery with developmentally supportive care. Detailed structured counselling of family regarding the diagnosis, etiology, comorbidities, investigations, management, prognosis and follow-up is recommended. Regular targeted follow-up should be done, preferably in consultation with a team of experts led by a developmental pediatrician/ pediatric neurologist.

India's Policy and Program Landscape for Early Childhood Development.

Despite continuous improvement in health and nutrition-related child outcomes in India in the last decade, sub-optimal developmental outcomes still prevail due to multiple risk factors. Overcoming these risks depends on a supportive policy environment and implementation across relevant sectors to achieve universal coverage for all children and their families, especially those at-risk and those already affected by developmental disorders/disability. Several national policies articulate the multi-dimensional and multisectoral vision for achieving early childhood development (ECD), focusing on the first 1000 days and reaching the most vulnerable children. The enactment of various 'Acts' entitles children to their right to nutrition, safety, and security. Flagship programs of various Ministries translate this vision into action through various schemes that provide services in each of the five domains of nurturing care. Public spending is the largest source of funding for ECD programs while Corporate Social Responsibility is emerging as a promising funding opportunity. Ensuring effective implementation of ECD by developing a shared framework for implementation across sectors, establishing a robust governance mechanism, and sustainable financing strategies for universal access is the recommended way forward.

Children's Color Trail Test for Objective Assessment of Attention in Children with Attention Deficit Hyperactivity Disorder: A Diagnostic Accuracy Study.

OBJECTIVE: To compare the Children's Color Trail Test scores in children with and without Attention Deficit Hyperactivity Disorder to assess its diagnostic performance in assessing attention-deficit. METHODS: 50 children with Attention Deficit Hyperactivity Disorder (diagnosed as per Diagnostic and Statistical Manual, 5th edition) and 50 age- and sex-matched children underwent Test 1 and Test 2 of the Children's Color Trail Test. A Receiver Operating Characteristics curve was constructed for the diagnostic accuracy of Children's Color Trail Test in Attention Deficit Hyperactivity Disorder. RESULTS: The Receiver Operating Characteristics curve showed a score ≤32 for Children's Color Trail Test 1 [AUC: 0.8 (0.71 to 0.87); P<0.001] and score ≤40 for Children's Color Trail Test 2 [AUC: 0.85 (0.77 to 0.92); P<0.001] as the best cut-off for diagnosing Attention Deficit Hyperactivity Disorder. CONCLUSIONS: Children's Color Trail Test is a promising tool for diagnosing attention deficit, and could be used in settings where parent or teacher reports are not available.

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

BACKGROUND: Mutations in SLC39A14 cause a recessive disorder of manganese (Mn) metabolism that manifests as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. METHODS: The present study genetically investigated a case of hypermanganesemia. We describe a family where an affected child with a history of progressive neurodegeneration showed symptoms of dystonia with increased levels of blood Mn and altered signal intensities in globus pallidus and dentate nucleus. Whole exome sequencing was conducted to genetically investigate the pathology in the child, which allowed us to identify a novel homozygous causal mutation in SLC39A14. RESULTS: Insilico modeling of the novel homozygous causal mutation in SLC39A14 predicted that it was deleterious, affecting Mn binding and transportation of metal by transmembrane instability of the protein structure. The clinical features of other reported mutations in SLC39A14 were also reviewed and the clinical spectrum in our case conforms to the described neurological abnormalities. CONCLUSIONS: We conclude that the mutation identified in SLC39A14 in our case is a novel variation linked to recessive disorders of hypermaganesemia and dystonia.

Health-related quality of life in children with cerebral palsy and their families.

OBJECTIVE: To determine the health-related quality of life in children with cerebral palsy and their families. METHODS: One hundred children (3-10 years of age) receiving regular rehabilitation therapy for cerebral palsy for last 1 year at a Child Development Centrer were enrolled and the Lifestyle assessment questionnaire - cerebral palsy was administered to the parents. RESULTS: 9% had good, 24% had mildly-affected, 37% had moderately-affected and 30% had severely-affected health-related quality of life. The physical independence, mobility and social integration dimensions were much more severely affected than the clinical burden, economic burden and schooling dimensions. CONCLUSION: Health-related quality of child is affected in most children with cerebral palsy.

Attention deficit hyperactivity disorder in adolescent school children.

The prevalence of Attention deficit hyperactivity disorder was estimated in 500 adolescents using Conners' parents and teachers rating scales. Thirty six (7.2%) adolescents had positive scores on both the scales. The parents and teachers also completed a Diagnostic and Statistical Manual-IV based questionnaire which showed good agreement with Conners' rating scales.

Children with developmental disabilities in India: age of initial concern and referral for rehabilitation services, and reasons for delay in referral.

This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum disorders), median age at initial concern was 7 months and age at referral for rehabilitation services was 13 months. In children with autism spectrum disorders, median age at initial concern was 24 months and age at referral was 42 months. Physician's recognition of the condition, single child, institutional delivery and neonatal admission ≥4 days were associated with early referral. The common reasons cited by the parents for delay in services were reassurance by physicians or family members and nonreferral by the physicians. Thus, routine screening for developmental problems (including autism) and improving the awareness of these conditions among physicians and society would lead to early referral.