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1.
Front Public Health ; 12: 1304861, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38966696

RESUMEN

Background: Limited interventions exist on reducing unwanted screen time (ST) among children from low- and middle-income countries (LMICs), so we developed and assessed the effectiveness of the program to lower unwanted media screen time (PLUMS) among children aged 2-5 years in Chandigarh, Union Territory, North India. Methods: An open-label randomized control parallel group trial per CONSORT guidelines was conducted among randomly selected 340 families with children aged 2-5 (±3 months) years in Chandigarh, India. PLUMS was implemented at the family level with a focus on modifying the home media environment and targeted individual-level interventions using parent and child modules for 2 months. A post-intervention (immediately) and a follow-up assessment after 6 months was done. During the follow-up period, the interaction was done passively via WhatsApp groups. The control group received routine healthcare services. Validated and standardized tools, including a digital screen exposure questionnaire with a physical activity component, preschool child behavior checklist, and sleep disturbance scale for children, were used to collect data at baseline, post-intervention, and follow-up periods. The primary outcome was the mean difference in ST (minutes/day) among children in the intervention group versus the control group. Generalized estimating equation (GEE) analysis was performed to adjust for clustering. Results: An equal number of families (n = 170) were randomly assigned to the intervention and control arms. In the post-intervention assessment, 161 and 166 families continued while, at the follow-up assessment, 154 and 147 were in the intervention and control arm, respectively. The mean difference in ST on a typical day [27.7 min, 95% Confidence Interval (CI) 5.1, 50.3] at the post-intervention assessment significantly (p < 0.05) decreased in the intervention (102.6 ± 98.5 min) arm as compared with the control (130.3 ± 112.8 min) arm. A significant reduction in ST (ß = -35.81 min, CI -70.6, -1.04) from baseline (ß = 123.1 min) to follow-up phase (ß = 116 min) was observed in GEE analysis. The duration of physical activity increased both at post-intervention (ß = 48.4 min, CI = +6.6, +90.3) and follow-up (ß = 73.4 min, CI = 36.2, 110.5) assessments in the intervention arm. Conclusion: The PLUMS intervention significantly reduced the children's mean ST on a typical day and increased the physical activity immediately post-intervention and during the 6-month follow-up period. These results might guide the policymakers to include strategies in the national child health programs in the Southeast Asia Region to reduce unwanted ST.Clinical trial registration: https://clinicaltrials.gov/, identifier CTRI/2017/09/009761.


Asunto(s)
Tiempo de Pantalla , Humanos , Preescolar , Femenino , Masculino , India , Encuestas y Cuestionarios , Evaluación de Programas y Proyectos de Salud , Conducta Infantil , Televisión
2.
Indian J Pediatr ; 2023 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-37930624

RESUMEN

OBJECTIVES: To assess cognitive function and factors affecting it in Indian children with early-onset type 1 diabetes (T1D) (less than 6 y). METHODS: This cross-sectional, single-centre study recruited children diagnosed with T1D before 6 y of age and having a disease duration of at least 2 y, as cases. Controls were age- and sex-matched apparently healthy children or siblings. Children with birth asphyxia, intellectual disability, syndromic children, or pre-existing psychiatric illness were excluded. Enrolled children underwent cognitive assessment using Malin's Intelligence Scale for Indian Children (MISIC), and scores in various subtests were compared between cases and controls. RESULTS: A total of 60 children were enrolled in each group. When compared to controls, cases had significantly lower scores on most subtests, verbal, performance and overall Intelligence Quotient (IQ- 100.62 ± 3.26 vs. 103.23 ± 1.22). HbA1c >9%, severe hypoglycemia and lesser duration since the last diabetic ketoacidosis (DKA) episode significantly correlated with lower neurocognitive scores. CONCLUSIONS: Children with early onset T1D showed significant deficits in various cognitive domains and IQ. Poor glycemic control, higher glycemic variability and exposure to severe hypoglycemia are risk factors for poor cognitive outcomes in these children. Further longitudinal studies could potentially aid in a finer understanding of factors affecting cognitive functioning in T1D children in developing countries.

3.
Ann Indian Acad Neurol ; 26(5): 749-753, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38022460

RESUMEN

Objectives: To study the clinical spectrum of inherited gray matter degenerative brain disorders (DBD) in children. Methods: This cross-sectional study evaluated children up to 12 y of age, diagnosed with an inherited gray matter DBD in a tertiary care pediatric hospital between July 2019 and December 2020. Results: A total of 314 children with progressive neuroregression were screened. Of these, 117 children with inherited gray matter DBD were included in the study. The clinic-based prevalence of DBD was 8.2%, and inherited gray matter DBD was 3.1%. The proportion of the inherited gray matter DBD was 37.3% among the overall DBD cases. Children were categorized into three groups based on the age at onset of disease: below 2 years (N = 57, 48.7%), between 2 and 5 years (N = 32, 27.3%), and between 6 and 12 years (N = 28, 23.9%). Based on the predominant cerebral structure involved, gray matter DBD were classified as cerebral gray matter disorders (53%), basal ganglia disorders (34.1%), and cerebellar disorders (12.8%). Overall, the most common disorders were Wilson disease (18%), neuronal ceroid lipofuscinosis (NCL) (17%), and neurodegeneration with brain iron accumulation (NBIA) (16%). The most common gray matter DBD in children <2 years of age were NBIA (n = 11), Rett syndrome (n = 11), and gangliosidoses (n = 10). NCL (n = 14) and ataxia telangiectasia (n = 6) were most common in the age group of 2-5 years. Wilson disease (n = 19) was the most common disorder in the age group of 6-12 years followed by NCL (n = 4) and NBIA (n = 3). Conclusion: Our study highlights the burden and spectrum of gray matter DBD in children. The clinic-based prevalence of DBD was 8.2%, and of inherited gray matter DBD was 3.1%. The proportion of inherited gray matter DBD was 37.3% among the overall DBD cases. Wilson disease, NCL, and NBIA are the most common gray matter DBD in children. Timely diagnosis is important for the prevention of recurrence in subsequent pregnancies.

4.
Lancet Reg Health Southeast Asia ; 8: 100094, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37384142

RESUMEN

Background: Diphtheria, Tetanus, and whole-cell Pertussis (DTwP) vaccination-associated seizures form the commonest type of serious adverse event following immunization in India and are an important reason for vaccine hesitancy. Our study explored the genetic explanation of DTwP vaccination-associated seizures or subsequent epilepsies. Methods: Between March 2017 and March 2019, we screened 67 children with DTwP vaccination-associated seizures or subsequent epilepsies, and of those, we studied 54 without prior seizures or neurodevelopmental deficits. Our study design was cross-sectional with a 1-year follow-up having both retrospective and prospective cases. We performed clinical exome sequencing focused on 157 epilepsy-associated genes and multiplex ligation-dependent probe amplification of the SCN1A gene at enrolment. We applied the Vineland Social Maturity Scale for neurodevelopmental assessment at follow-up. Findings: Of 54 children enrolled and underwent genetic testing (median age 37.5 months, interquartile range 7.7-67.2; diagnosis at enrolment: epilepsy 29, febrile seizure 21, and febrile seizure-plus 4), we found 33 pathogenic variants of 12 genes. Of 33 variants, 13 (39%) were novel. Most pathogenic variants were found in SCN1A gene (n = 21/33; 64%), SCN8A in 2 children, and 10 children had one variant in CDKL5, DEPDC5, GNAO1, KCNA2, KCNT1, KCNQ2, NPRL3, PCDH19, RHOBTB2, and SLC2A1. Five or more seizures (odds ratio [OR] = 5.3, confidence interval [CI]: 1.6-18.4, p = 0.006), drug-resistant epilepsy (OR = 9.8, 95% CI: 2.6-30.7, p = 0.001) and neurodevelopmental impairment (social quotient < 70) (OR = 5.6, 95% CI: 1.65-17.6, p = 0.006) were significant predictors of genetic diagnosis. Interpretation: Our study provides proof-of-concept for genetic aetiology in children with DTwP vaccination-associated seizures or subsequent epilepsies and has important implications for vaccination policies in developing countries. Funding: International Pediatric Association Foundation, Inc. (IPAF): Ihsan Dogramaci research award 2016/2017; Indian Council of Medical Research (ICMR), New Delhi, India: No.3/1/3/JRF-2016/HRD/LS/71/10940.

5.
Neuropediatrics ; 54(5): 335-338, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37379859

RESUMEN

The neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were assessed with Diagnostic and Statistical Manual of Mental Disorders-5 criteria for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID), and childhood psychopathology measurement schedule (CPMS) for behavioral disorders. The median age at onset of epileptic spasms was 6.5 (1-12) months, and the age at enrolment was 5 (1-15) years. Of 30 children, 2 (6.7%) had only ADHD, 15 (50%) had only ID/GDD (global developmental delay), 4 (13.3%) had ASD and ID/GDD, 3 (10%) had ADHD and ID/GDD, and 6 (20%) had none. The median intelligence quotient/development quotient (IQ/DQ) score was 60.5 (20-105). CPMS assessment revealed significant behavioral abnormalities in almost half the children. Eight (26.7%) patients were completely seizure-free for at least 2 years, 8 (26.7%) had generalized tonic-clonic seizures, 11 (36.6%) had focal epilepsy, and 3 (10%) had evolved into Lennox-Gastaut syndrome. A high proportion of neurodevelopment disorders, including ASD, ADHD, ID/GDD, and behavioral disorders were seen in this pilot study with a small cohort of children with TSC with epileptic spasms.


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Espasmos Infantiles , Esclerosis Tuberosa , Niño , Humanos , Preescolar , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/diagnóstico , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/epidemiología , Estudios Transversales , Proyectos Piloto , Espasmos Infantiles/complicaciones , Espasmos Infantiles/epidemiología , Espasmo , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/epidemiología
6.
J Pediatr Endocrinol Metab ; 36(3): 248-254, 2023 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-36727475

RESUMEN

OBJECTIVES: Long-term care of children with congenital adrenal hyperplasia (CAH) has psycho-social implications for parents. Experts recommend a customized educational program for parents to facilitate their psychological adaptation and improve disease management. Such educational programs often provided by nurse counsellors are well evaluated in developed countries. There is a dearth of data on nurse-led counselling in the context of less developed countries. We aimed to evaluate the effect of a nurse-led counselling intervention on various psycho-social outcomes among parents of children with CAH. METHODS: Fifty consecutive parents of children with CAH attending an outpatient clinic at a tertiary-care teaching hospital were enrolled. Parents' stress level, stigma, knowledge, practices, and treatment adherence were assessed by using Cohen's Perceived Stress Scale (PSS), DSD Stigma scale, and HILL-Bon Medication Adherence Scale (HB-MAS). Three educational counselling sessions were conducted within a month's gap, using PowerPoint presentations and a booklet. Assessment of outcomes was done at baseline and at the end of the third session. RESULTS: At baseline, the majority (90%) of the parents had moderate stress. Half of the parents had mild and the rest had moderate stigma. After the intervention, the majority (94%) of parents had shifted to mild levels of stress and stigma. At baseline, 86% of the parents had poor knowledge about the disease whereas post-intervention, 80% were having good knowledge. Disease management practices and treatment adherence also improved after the intervention. CONCLUSIONS: Nurse-led counselling was effective in reducing psycho-social problems, increasing knowledge, as well as improving practices and treatment adherence.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Niño , Humanos , Hiperplasia Suprarrenal Congénita/psicología , Rol de la Enfermera , Padres/psicología , Consejo , Instituciones de Atención Ambulatoria
7.
Pediatr Neurol ; 140: 18-24, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36587490

RESUMEN

BACKGROUND: Most children with Guillain-Barré syndrome (GBS) recover but may suffer from long-term sequelae, interfering with development and quality of life. Owing to the lack of published data, we aimed to assess the long-term neurological, behavioral, functional, quality of life, and school performance outcomes them. METHODS: Design: Cross-sectional observational. SETTING: Pediatric intensive care unit. PATIENTS: Children, aged one to 12 years, with GBS admitted over five years (July 2012 to June 2017) were enrolled during one year (July 2017 to June 2018). These children were assessed for the following outcomes: neurological (Hughes disability score, Pediatric Cerebral Performance Category [PCPC], Pediatric Overall Performance Category [POPC], and Glasgow Outcome Scale-Extended Pediatric version [GOS-E Peds] scales), behavioral (Childhood Psychopathology Measurement Schedule [CPMS]), functional (Vineland Social Maturity Scale [VSMS]-Indian Adaptation), quality of life (Pediatric Quality of Life [PedsQL]), and school performance (Parent-Directed Questionnaire). RESULTS: Eighty children were enrolled after a median of 3.0 (1.3-4.2) years from discharge. The majority (95%) had favorable neurological recovery (Hughes disability score 0 to 1). Favorable outcome was noted in 95% of children on PCPC, 87.5% on POPC, 60% on GOS-E Peds, 86.2% on CPMS, 92.5% on VSMS, and 98% on PedsQL. The majority (97.5%) of childre were attending schools, and 57.7% had satisfactory school performance. The presence of quadriparesis at admission, mechanical ventilation, tracheostomy requirement, poor ambulatory status at discharge, and longer pediatric intensive care unit and hospital stay predicted unfavorable neurological outcome on different tools. Absence of quadriparesis at admission and no requirement of mechanical ventilation predicted a favorable result on all outcome measures. CONCLUSIONS: On long-term follow-up, most children with severe GBS showed favorable neurological, behavioral, functional, and quality of life outcomes. Severe clinical presentation and prolonged intensive care unit stay predict poor long-term outcome.


Asunto(s)
Síndrome de Guillain-Barré , Niño , Preescolar , Humanos , Lactante , Estudios Transversales , Unidades de Cuidado Intensivo Pediátrico , Cuadriplejía , Calidad de Vida
8.
Indian J Pediatr ; 90(4): 364-368, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36255651

RESUMEN

Autism is a spectrum disorder marked by considerable heterogeneity and characterized by impairments in the social communication domain along with the presence of restricted and repetitive behaviors or interests. Comprehensive autism evaluation generally consists of assessments by a multidisciplinary team. Having multiple specialists in the evaluation team aids in diagnosis and in chalking out a comprehensive management plan. Diagnosis is generally based on detailed developmental history, clinical judgment, and the use of standardized diagnostic instruments. Differential diagnosis is complicated as many of the mental health and neurodevelopmental conditions that routinely coexist with autism also have some symptoms that overlap with autism. Several barriers are linked to delay in diagnosis including lack of comfort in diagnosing autism by primary care providers, delayed referrals, the inability of parents to raise critical developmental concerns, confusion of autism with other conditions, and health system that is not responsive to the needs of the underserved communities. The etiology of autism spectrum disorder (ASD) is complex and still not completely understood; it involves genetics, neurobiology, and environmental exposures, leading to a diverse presentation of behaviors and symptoms. There is an imperative need to start therapeutic interventions as soon as a diagnosis of autism is suspected rather than wait for a definitive diagnosis. Early diagnosis is vital as timely intervention can lead to better outcomes for children and their families.


Asunto(s)
Trastorno del Espectro Autista , Diagnóstico Precoz , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/etiología , Pediatras , Trastorno Autístico/diagnóstico , Tamizaje Masivo , Humanos , Preescolar
9.
Indian J Pediatr ; 90(9): 867-872, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36048348

RESUMEN

OBJECTIVES: To compare the mean Likert (caregiver impression of change) and CAPUTE scores in children with ITS treated with daily injectable vitamin B12 alone versus injectable vitamin B12 with other multinutrients at 1 wk and 1 mo of therapy. METHODS: This was an open-label, active-controlled, assessor-blinded, noninferiority, randomized clinical trial. The participants included children aged 3 mo to 2 y with infantile tremor syndrome. Children were randomized to receive either 1 mg of daily injectable vitamin B12 or 1 mg of daily injectable vitamin B12 with other multinutrients (B12 + MV). Primary outcome measure was the mean Likert score in the two arms at 1 wk. Secondary outcome measures were mean change in CAPUTE scores at 1 wk of therapy; and mean change in CAPUTE and Vineland Social Maturity Scale (VSMS) scores after 1 mo of treatment. RESULTS: Seventy-two (N = 72) of the 160 screened were enrolled and randomized. The mean (SD) Likert score in the B12 group (n = 38) was 16.1 (3.7) and in the B12 + MV group (n = 34) was 14.9 (3.7); p = 0.237. Mean (SD) change in CAPUTE (CAT/CLAMS) at 1 mo in the groups was not statistically different. The mean (SD) change in social quotient in the B12 monotherapy group, 35.0 (20.7) was significantly higher than the B12 + multinutrient group 23.5 (15.4); p=0.01. CONCLUSION: Injectable vitamin B12 monotherapy in ITS resulted in an improvement that was noninferior to combination multinutrient therapy, strongly supporting vitamin B12 deficiency as the cause of infantile tremor syndrome. TRIAL REGISTRATION: The trial was registered at CTRI.org (CTRI/2018/05/013841).


Asunto(s)
Deficiencia de Vitamina B 12 , Vitamina B 12 , Humanos , Vitamina B 12/uso terapéutico , Temblor/tratamiento farmacológico , Suplementos Dietéticos , Deficiencia de Vitamina B 12/tratamiento farmacológico , Terapia Combinada , Vitaminas/uso terapéutico , Síndrome
10.
J Child Neurol ; 37(10-11): 864-870, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35918819

RESUMEN

Introduction: The prevalence and patterns of sleep disturbances in neurocutaneous syndromes are variable and understudied. Methods: Cross-sectional study for 18 months at a tertiary care pediatric hospital, involving 100 children with neurocutaneous syndromes aged between 4 and 10 years using the Children's Sleep Habits Questionnaire-Abbreviated. Results: In 100 children with neurocutaneous syndromes, 47 (47%) had significant sleep problems. In subgroup analysis, 7 of 17 children with neurofibromatosis 1, 24 of 63 children with tuberous sclerosis complex, 10 of 12 children with Sturge-Weber syndrome, 2 of 3 children with linear nevus sebaceous syndrome, and each of the children with hypomelanosis of Ito, McCune-Albright syndrome, megalencephaly-capillary malformation syndrome, and unclassified neurocutaneous syndrome had significant sleep problems. Conclusion: The prevalence of sleep problems in our study population was not more than that observed in the general pediatric population. Prospective multicentric studies are needed to comprehend sleep problems in children with neurocutaneous syndromes.


Asunto(s)
Síndromes Neurocutáneos , Trastornos del Sueño-Vigilia , Síndrome de Sturge-Weber , Esclerosis Tuberosa , Niño , Preescolar , Estudios Transversales , Humanos , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/epidemiología , Estudios Prospectivos , Trastornos del Sueño-Vigilia/epidemiología , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/epidemiología
11.
Trop Doct ; 52(4): 572-575, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35892163

RESUMEN

The phenotypical profile of cutaneous and ocular manifestations in neurocutaneous syndromes is inconstant. We made a cross-sectional study over 18 months of children with neurocutaneous syndromes aged between 1-15 years. A varied presentation was found. Attention to both the typical but also the rare atypical presentations enhances an early identification of the disorder and therefore opportune management.


Asunto(s)
Síndromes Neurocutáneos , Adolescente , Niño , Preescolar , Estudios Transversales , Humanos , Lactante , Síndromes Neurocutáneos/diagnóstico
12.
Indian J Public Health ; 66(2): 121-127, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35859492

RESUMEN

Background: Research in India has seldom studied caregivers' perceptions, experiences, and needs for information and personal support after an autism spectrum disorder (ASD) diagnosis. Objectives: The objectives of the study were to understand the perceived barriers for obtaining a diagnosis and the perspectives and experiences of parents of children with autism. Materials and Methods: Parents with a diagnosed ASD child (within a year of diagnosis) in the 3-8 years range were recruited from the Pediatric Psychology and Neurodevelopmental Clinic from a tertiary care teaching hospital in North India. An interview guide elicited information about experiences regarding obtaining an ASD diagnosis, perceived barriers and facilitators, reactions to diagnosis, postdiagnostic family and community experiences, and stress experienced by parents. Qualitative responses were analyzed using thematic analysis. Participants were recruited till there was a saturation of themes. The ethics clearance was provided by the institutional review board. Results: Twenty-eight caregivers of children with ASD were recruited for the study. Overall, nine themes were identified from the qualitative analysis of the interviews: two before diagnosis (delayed help-seeking and experiences with healthcare), one at the time of diagnosis disclosure (heightened emotional response to diagnosis), and six themes after the diagnosis (increased stress, behavioral challenges, deterioration in family relationships, negative attitudes of the family, seeking support, and moving forward with hope for the future). Conclusions: There are several barriers and gaps in the autism-related available services in the country, and there is a need to provide inclusive, supportive, culturally sensitive, and family-centered model of care for parents raising children with ASD.


Asunto(s)
Trastorno del Espectro Autista , Responsabilidad Parental , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Niño , Accesibilidad a los Servicios de Salud , Humanos , India , Responsabilidad Parental/psicología , Investigación Cualitativa
13.
Indian J Pediatr ; 89(12): 1216-1221, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35678991

RESUMEN

OBJECTIVES: To examine the frequency of repetitive behaviors among children with autism spectrum disorder (ASD) and compare it to age-matched developmentally delayed (DD) and typically developing children (TD). METHODS: Twenty-five children (3-8 y) with a diagnosis of ASD were compared to two age-matched control groups namely the DD and TD groups. The Repetitive Behaviors Scale-Revised (RBS-R) was administered to the parents to assess the frequency, severity, and impairment associated with restricted, repetitive behaviors, and interests (RRBIs) displayed. The study was cleared by the institute ethics committee. RESULTS: The three groups were well matched on age and sex distribution and comparisons on the RBS-R showed that the ASD group had a significantly higher total score (F = 51.52, p = 0.0001) and number of items endorsed on the scale (F = 37.91, p = 0.0001). Stepwise multiple regression analysis revealed that 35.8% of the variance in the total RRBI score of the ASD children was explained by the age and severity of autism (F = 6.12. p = .008). Older children with severe ASD features had significantly higher total RRBI scores. CONCLUSIONS: RRBIs are not just specific to autism and should not be used in isolation to identify children with autism. Gaining a complete understanding of the complexity and variability of the restricted interests would help in improving the diagnostic procedures and in the development of a comprehensive therapeutic plan.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Humanos , Adolescente , Preescolar , Trastorno Autístico/diagnóstico , Trastorno Autístico/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/complicaciones , Cognición , Padres
14.
Eur J Paediatr Neurol ; 39: 49-58, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35662016

RESUMEN

AIM: To evaluate the pathogenic variants in GCDH gene and to assess the neurodevelopmental outcomes in children with Glutaric aciduria type 1 (GA-1). METHOD: Cross-sectional observational study between January 2019 and June 2020 in consecutive North Indian children with a clinical and biochemical suspicion of GA-1. Variants in the coding regions of GCDH gene were identified through Sanger sequencing. Neurodevelopmental and quality of life assessment was done using standardized scales. RESULTS: 24 children with GA-1 were identified. The median age at diagnosis was 12 months and the median delay in diagnosis was 3 months. Genetic analysis was done in 14 cases. It revealed 12 variants (11 missense and one nonsense) from 13 patients. Most of the pathogenic variants were in exon 9 and exon 5. Three novel variants were identified in three patients: two missense variants c.169G > A (p.Glu57Lys), c.1048T > C (p.Cys350Arg) and one nonsense variant c.331C > T (p.Lys111Ter). On neurodevelopmental assessment, majority of children with GA-1 were non ambulatory (62.5%), had limited hand skills (58.3%) and impaired communication (58.3%). Overall, poor global development was noted in 43.7%. A pre-existing developmental delay was significantly associated with impaired communication skills (p = 0.03), and the number of episodes of encephalopathy were significantly associated with impaired gross motor skill (p = 0.02). Presence of encephalopathy was significantly associated with poor performance in social emotional (p = 0.01) and cognitive (p = 0.03) domains of Developmental Profile-III scale and development of severe dystonia (p = 0.01). CONCLUSION: Our findings highlight the clinical, biochemical, radiological and genetic spectrum of GA-1 in children in North India and report the presence of novel pathogenic variations.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Encefalopatías Metabólicas , Glutaril-CoA Deshidrogenasa , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Errores Innatos del Metabolismo de los Aminoácidos/genética , Encefalopatías Metabólicas/enzimología , Encefalopatías Metabólicas/genética , Niño , Estudios Transversales , Glutaril-CoA Deshidrogenasa/química , Glutaril-CoA Deshidrogenasa/deficiencia , Glutaril-CoA Deshidrogenasa/genética , Humanos , Calidad de Vida
16.
Indian Pediatr ; 59(5): 401-415, 2022 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-35188106

RESUMEN

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.


Asunto(s)
Neurología , Pediatría , Niño , Preescolar , Humanos , Lactante , Comorbilidad , Consenso , Instituciones Académicas
18.
Indian J Pediatr ; 89(7): 717-719, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35089488

RESUMEN

This study evaluated 32 children (mean age: 8.5 y) with autism spectrum disorder (ASD) and 23 healthy controls (similar age, sex, and Tanner stage) for hyperandrogenism. These children underwent sexual maturity rating (Tanner staging), ASD severity assessment (Childhood Autism Rating Scale), and quantitative estimation for plasma testosterone, dehydroepiandrosterone sulfate (DHEAS), and androstenedione. There was no significant difference in androgen levels in the two groups. Elevated (> 95 centiles) testosterone, DHEAS, and androstenedione levels were seen in 12.3%, 6.2%, and 9% children with ASD, and 7/9 of these children (78%) with hyperandrogenism had severe ASD. However, there was no significant correlation between ASD severity and androgen levels.


Asunto(s)
Trastorno del Espectro Autista , Hiperandrogenismo , Andrógenos , Androstenodiona , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Niño , Deshidroepiandrosterona , Humanos , Hiperandrogenismo/complicaciones , Hiperandrogenismo/diagnóstico , Testosterona
19.
J Dev Behav Pediatr ; 43(1): e29-e38, 2022 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-34016828

RESUMEN

OBJECTIVE: To estimate the prevalence of screen time (ST) and its associated effects, including emotional and behavioral changes, sleep disturbances, and physical activity levels, in children aged 2 to 5 years. METHODS: We conducted a cross-sectional study among 400 randomly selected children aged 2 to 5 years in Chandigarh, North India. We used a validated, pretested, semistructured digital-screen exposure and physical activity questionnaire; an abbreviated standard Child Sleep Habit Questionnaire; and a standard Preschool Child Behavior Checklist. We considered ST as excessive if it was more than 1 hour per day as per the American Academy of Pediatrics 2016 guidelines. IBM SPSS Statistics for Macintosh, version 25.0, was used to perform linear regression model analysis and stepwise binary multivariate logistic regression. RESULTS: Approximately 59.5% of children (mean age 3.5 ± 0.9 years) had excessive ST. ST was higher on weekdays (58.5%) compared with the weekends (56.8%). Higher ST correlated positively with the mother's level of education (r = +0.219) and higher per capita family income (r = +0.227). Screen time was also positively correlated with attending daycare centers (adjusted odd's ratio [aOR] = 1.82, confidence interval [CI] = 1.18-2.81), caregivers ST of more than 2 hours (aOR = 1.68, CI = 1.12-2.56), and the absence of digital-media rules at home (aOR = 3.3, CI = 0.92-11.65). It was negatively correlated (i.e., protective) with lower mother's education (i.e., up to middle school) (aOR = 0.62, CI = 0.41-0.96) and watching educational digital-media content (aOR = 0.53, CI = 0.33-0.87). CONCLUSION: We observed a high prevalence of excessive ST among children aged 2 to 5 years. Screen time was significantly associated with being in daycare centers, higher caregivers' ST, lower mothers' educational status, and educational digital content.


Asunto(s)
Instituciones Académicas , Tiempo de Pantalla , Niño , Preescolar , Estudios Transversales , Escolaridad , Humanos , Prevalencia
20.
Indian J Pediatr ; 89(10): 975-982, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-34843062

RESUMEN

OBJECTIVE: To evaluate the prevalence of epilepsy and  electroencephalographic abnormalities in children with autism spectrum disorders (ASD) and determine their risk factors. METHODS: This cross-sectional study was conducted over one year in children with ASD aged between 3 and 14 y. Classification of epilepsy and routine electroencephalography (EEG) recordings were done for all the patients. Developmental and cognitive assessments were done using Developmental Profile 3. Children were divided into three groups: ASD with epilepsy, ASD with isolated electroencephalographic abnormalities, and ASD with neither epilepsy nor electroencephalographic abnormalities. RESULTS: One hundred children with ASD were enrolled. Epilepsy was reported in 23% and subclinical electroencephalographic abnormalities were documented in 8%. The most common seizure types were generalized-onset tonic-clonic (48%), focal-onset with impaired awareness (17%), and focal to bilateral tonic-clonic seizures (17%). In children with subclinical epileptiform discharges, focal abnormalities were most common (75%) and were maximally seen over the temporal region (50%). Subnormal intellect (88.6%) and abnormal global developmental score (82%) were noted in the majority of children. Female gender, abnormal neurological examination, and adverse perinatal events were significantly associated with epilepsy. Of these, female gender and adverse perinatal events were independent predictors of epilepsy. Isolated EEG abnormalities were significantly associated with abnormal neurological examination in comparison with autistic children without epilepsy/EEG abnormalities. CONCLUSION: Epilepsy is seen in up to one-fourth children with ASD. Female gender and adverse perinatal events are independent risk factors for epilepsy. Subclinical or isolated EEG abnormalities are associated with abnormal neurological examination.


Asunto(s)
Trastorno del Espectro Autista , Epilepsia , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Niño , Preescolar , Estudios Transversales , Electroencefalografía , Epilepsia/complicaciones , Epilepsia/diagnóstico , Epilepsia/epidemiología , Femenino , Humanos , Convulsiones/diagnóstico
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