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BACKGROUND: The economic burden of autism is substantial and includes a range of costs, including healthcare, education, productivity losses, informal care and respite care, among others. In India, approximately, 2 million children aged 2-9 years have autism. Given the likely substantial burden of illness and the need to identify effective and cost-effective interventions, this research aimed to produce a comprehensive cost of illness inventory (COII) suitable for children with autism in South Asia (India) to support future research. METHODS: A structured and iterative design process was followed to create the COII, including literature reviews, interviews with caregivers, pilot testing and translation. Across the development of the COII, thirty-two families were involved in the design and piloting of the tool. The COII was forward translated (from English to Hindi) and back translated. Each stage of the process of development of the COII resulted in the further refinement of the tool. RESULTS: Domains covered in the final COII include education, childcare, relocation, healthcare contacts (outpatient, inpatient, medical emergencies, investigations and medication), religious retreats and rituals, specialist equipment, workshops and training, special diet, support and care, certification, occupational adjustments and government rebates/schemes. Administration and completion of the COII determined it to be feasible to complete in 35 minutes by qualified and trained researchers. The final COII is hosted by REDCap Cloud and is a bilingual instrument (Hindi and English). CONCLUSIONS: The COII was developed using experiences gathered from an iterative process in a metropolitan area within the context of one low- and middle-income country (LMIC) setting, India. Compared to COII tools used for children with autism in high-income country settings, additional domains were required, such as complimentary medication (e.g. religious retreats and homeopathy). The COII will allow future research to quantify the cost of illness of autism in India from a broad perspective and will support relevant economic evaluations. Understanding the process of developing the questionnaire will help researchers working in LMICs needing to adapt the current COII or developing similar questionnaires.
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Trastorno del Espectro Autista , Trastorno Autístico , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Niño , Costo de Enfermedad , Humanos , India , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To study the clinical profile and factors associated with post-traumatic headache (PTH) in children with mild traumatic brain injury (mTBI) attending an urban public hospital. METHODS: We enrolled 130 consecutive children aged 6-12 years with mTBI (as per the International Classification of Headache Disorders-III criteria), and followed them up for 7 days. Those who developed PTH were further followed up monthly for 3 months. RESULTS: Thirty (23.1%) children developed PTH; 25 (19.2%) children had acute PTH (duration 7 days to 3 months) and the remaining 5 (3.8%) developed persistent PTH (> 3 months). Majority (50%) had bilateral headache and squeezing quality (50%). Forty percent of those with PTH met the criteria for migraine. Obesity (P = 0.84), female gender (P = 0.26), family history of headache (P = 0.93), and prior history of concussion (P = 0.70) were not associated with risk of PTH. Children who developed PTH had higher rate of nausea (RR (95% CI) = 2.42 (1.06, 5.5); P = 0.03) and vomiting (RR (95% CI) = 3.76 (1.64, 8.5); P = 0.001) after mTBI. Headache resolved within 1 month in 63.3% of children. CONCLUSION: PTH was found to be common after mTBI in children. Protocolized follow-up and directed history taking for PTH in all children with mTBI, who are frequently discharge from the emergency department after first aid, will lead to appropriate diagnosis and management of this problem.
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Conmoción Encefálica , Cefalea Postraumática , Conmoción Encefálica/complicaciones , Conmoción Encefálica/epidemiología , Niño , Curriculum , Femenino , Cefalea , Humanos , Cefalea Postraumática/diagnóstico , Cefalea Postraumática/epidemiología , Cefalea Postraumática/etiología , Estudios ProspectivosRESUMEN
AIMS: This project tests a novel, targeted home visitation programme for child development targeted behaviour change during the first 1,000 days for families in Delhi urban slums. BACKGROUND: The first 1,000 days have highest brain development potential and is dependent on the available nutrition, health, social and cognitive stimulus. Over 1.3 million children are born annually in the slums of India and are at risk of limited development potential. The children in urban slums at multiplicity of adversities at family, society and environmental levels. No tools are available for the community health functionaries to support the families to promote child development. DESIGN: This cohort study targets provision of behaviour change interventions targeted at three groups (pregnant women, infants and children in year 2) to document the impact on child development. METHODS: This implementation project delivers nutrition, health and child stimulation integrated services for the families through existing government community health workers and nurses. These workers shall train the families using audio-visual messages in tablets and demonstration kits for practice through quarterly home visits. Data on health, nutrition and child development shall be collected at baseline, midterm and after one year. The data from these participants shall be compared with data from recently delivered women, children aged 13 months and 25 months without intervention to document the impact. DISCUSSION: The successful implementation of the project has potential for future integration of the child development components into the existing programme at scale. The learning from this project shall be useful for India and other developing countries. IMPACT: The first 1,000 days are critical period in human brain development and cognitive function acquisition potential, which is dependent on the available nutrition, health, social and cognitive stimulus. The development potential in children born and living in the slums, who are exposed to various adversities, can be mitigated through appropriate family-level practices with support from the community health workers and Nurses. This study is documenting the feasibility and impact of home visit linked coaching of families for improving child development status during the first 1,000 days in three sums of Delhi, India.
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Desarrollo Infantil , Áreas de Pobreza , Niño , Estudios de Cohortes , Agentes Comunitarios de Salud , Femenino , Humanos , India , Lactante , EmbarazoRESUMEN
BACKGROUND: Drug-resistant epilepsy (DRE), a condition in which seizures persist and seizure freedom is unlikely to be attained with further manipulation of anti-epileptic drugs, occurs in around 20% of children with epilepsy. This study was conducted with the aim to study the profile of Indian children with resistant epilepsy, using the new consensus definition of DRE. METHODS: All children who had been attending the Pediatric Neurology Clinic regularly for at least 6 months were reviewed between April and September 2015. Children fulfilling the ILAE Commission on Therapeutic Strategies Consensus Proposal definition of DRE were enrolled for the study. After informed consent, the records were reviewed and disease-related data was entered in the study form. The data were analyzed to determine etiological factors and treatment gaps in children with DRE. RESULTS: Fifty children (12 females) with median (range) age of 90 (11-159) months and follow-up of 17.9 (8.5-20) months were enrolled. The mean (standard deviation) age at seizure onset and start of anti-epileptic drugs (AED) were 1.8 (2.11) and 2.1 (2.09) years, respectively. The median (range) number of anti-epileptic drugs that had been tried in these children was 5 (2-9), with drug side effects leading to discontinuation in 8 (16%) patients. Only two patients had tried ketogenic diet; vagal nerve stimulation and epilepsy surgery had not been tried by any family, despite recommendation by the physicians in 7 children. CONCLUSIONS: Majority of Indian children with DRE have onset of epilepsy in early infancy, and are infrequently provided access to newer non-pharmacological measures.
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Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/epidemiología , Hospitales Públicos , Centros de Atención Terciaria , Adolescente , Niño , Preescolar , Epilepsia Refractaria/terapia , Femenino , Estudios de Seguimiento , Humanos , India/epidemiología , Lactante , MasculinoRESUMEN
BACKGROUND: Neurodevelopmental disorders (NDDs) compromise the development and attainment of full social and economic potential at individual, family, community, and country levels. Paucity of data on NDDs slows down policy and programmatic action in most developing countries despite perceived high burden. METHODS AND FINDINGS: We assessed 3,964 children (with almost equal number of boys and girls distributed in 2-<6 and 6-9 year age categories) identified from five geographically diverse populations in India using cluster sampling technique (probability proportionate to population size). These were from the North-Central, i.e., Palwal (N = 998; all rural, 16.4% non-Hindu, 25.3% from scheduled caste/tribe [SC-ST] [these are considered underserved communities who are eligible for affirmative action]); North, i.e., Kangra (N = 997; 91.6% rural, 3.7% non-Hindu, 25.3% SC-ST); East, i.e., Dhenkanal (N = 981; 89.8% rural, 1.2% non-Hindu, 38.0% SC-ST); South, i.e., Hyderabad (N = 495; all urban, 25.7% non-Hindu, 27.3% SC-ST) and West, i.e., North Goa (N = 493; 68.0% rural, 11.4% non-Hindu, 18.5% SC-ST). All children were assessed for vision impairment (VI), epilepsy (Epi), neuromotor impairments including cerebral palsy (NMI-CP), hearing impairment (HI), speech and language disorders, autism spectrum disorders (ASDs), and intellectual disability (ID). Furthermore, 6-9-year-old children were also assessed for attention deficit hyperactivity disorder (ADHD) and learning disorders (LDs). We standardized sample characteristics as per Census of India 2011 to arrive at district level and all-sites-pooled estimates. Site-specific prevalence of any of seven NDDs in 2-<6 year olds ranged from 2.9% (95% CI 1.6-5.5) to 18.7% (95% CI 14.7-23.6), and for any of nine NDDs in the 6-9-year-old children, from 6.5% (95% CI 4.6-9.1) to 18.5% (95% CI 15.3-22.3). Two or more NDDs were present in 0.4% (95% CI 0.1-1.7) to 4.3% (95% CI 2.2-8.2) in the younger age category and 0.7% (95% CI 0.2-2.0) to 5.3% (95% CI 3.3-8.2) in the older age category. All-site-pooled estimates for NDDs were 9.2% (95% CI 7.5-11.2) and 13.6% (95% CI 11.3-16.2) in children of 2-<6 and 6-9 year age categories, respectively, without significant difference according to gender, rural/urban residence, or religion; almost one-fifth of these children had more than one NDD. The pooled estimates for prevalence increased by up to three percentage points when these were adjusted for national rates of stunting or low birth weight (LBW). HI, ID, speech and language disorders, Epi, and LDs were the common NDDs across sites. Upon risk modelling, noninstitutional delivery, history of perinatal asphyxia, neonatal illness, postnatal neurological/brain infections, stunting, LBW/prematurity, and older age category (6-9 year) were significantly associated with NDDs. The study sample was underrepresentative of stunting and LBW and had a 15.6% refusal. These factors could be contributing to underestimation of the true NDD burden in our population. CONCLUSIONS: The study identifies NDDs in children aged 2-9 years as a significant public health burden for India. HI was higher than and ASD prevalence comparable to the published global literature. Most risk factors of NDDs were modifiable and amenable to public health interventions.
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Trastornos del Neurodesarrollo/epidemiología , Distribución por Edad , Niño , Conducta Infantil , Desarrollo Infantil , Preescolar , Estudios Transversales , Femenino , Encuestas Epidemiológicas , Humanos , India/epidemiología , Masculino , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/fisiopatología , Trastornos del Neurodesarrollo/psicología , Prevalencia , Medición de Riesgo , Factores de RiesgoRESUMEN
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.
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Proteínas de Transporte de Catión/genética , Manganeso/sangre , Enfermedades Metabólicas/genética , Enfermedades Neurodegenerativas/genética , Femenino , Humanos , Lactante , Enfermedades Metabólicas/sangre , Enfermedades Metabólicas/metabolismo , Enfermedades Metabólicas/fisiopatología , Enfermedades Neurodegenerativas/sangre , Enfermedades Neurodegenerativas/metabolismo , Enfermedades Neurodegenerativas/fisiopatología , Linaje , Secuenciación del ExomaRESUMEN
BACKGROUND & OBJECTIVES: Botulinum toxin is considered as an effective treatment for spasticity in children with cerebral palsy (CP). However, there are only a few long-term studies, and the effects on motor function have been inconclusive. Moreover, due to its high cost and need for intensive post-injection therapy, utility in context of developing nations has not been established. This retrospective study was undertaken to assess the long term effects of botulinum toxin-A with physical therapy in children with CP. METHODS: This retrospective study was conducted at a tertiary care centre in India, where a limited supply of botulinum toxin was introduced in the year 2009. It was used in a selective group of patients with CP along with intensive physical therapies. All children who received lower-limb botulinum injections over a 42-month period were analyzed. For evaluation of treatment effect, the measurement at 1st pre-injection assessment and the last measurements, i.e. 12 wk after last injection received by that child were compared. RESULTS: Twenty nine patients (20 males, median age 51 months) received 69 sessions of botulinum toxin injections in the lower limbs over a 42-month period. Thirteen patients were diplegic, 10 were quadriplegic, five were triplegic and one was hemiplegic. There was a significant improvement in pre- and post-injection scores on Observational Gait Scale (right side 7.1±3.6 to 10.7±3.7, left side 6.7±3.5 to 9.9±3.4), Gross Motor Function Measure Scale (47.9±17.7 to 67.6±17.2), Modified Ashworth Scale, passive range of motion and Gross Motor Function Classification System. Most of the patients showed gain in motor milestones as well. INTERPRETATION & CONCLUSIONS: Our results showed that judicious use of botulinum injections along with intensive physio/occupational therapies could yield good results in children with CP.
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Toxinas Botulínicas Tipo A/administración & dosificación , Parálisis Cerebral/terapia , Modalidades de Fisioterapia , Preescolar , Terapia Combinada , Femenino , Humanos , Inyecciones , Extremidad Inferior , Masculino , Estudios RetrospectivosRESUMEN
Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children presenting with a leukoencephalopathy remain without a specific diagnosis. Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically characterized by hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), as well as the identification of compound-heterozygous and homozygous mutations in cytoplasmic aspartyl-tRNA synthetase (DARS). These mutations cause nonsynonymous changes to seven highly conserved amino acids, five of which are unchanged between yeast and man, in the DARS C-terminal lobe adjacent to, or within, the active-site pocket. Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. These findings add to the growing body of evidence that mutations in tRNA synthetases can cause a broad range of neurologic disorders.
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Aspartato-ARNt Ligasa/genética , Leucoencefalopatías/genética , Modelos Moleculares , Espasticidad Muscular/genética , Conformación Proteica , Aspartato-ARNt Ligasa/química , Tronco Encefálico/patología , Cristalografía por Rayos X , Humanos , Pierna/patología , Leucoencefalopatías/patología , Mutación/genética , Médula Espinal/patologíaRESUMEN
OBJECTIVE: To assess the effect of iron supplementation on symptoms in children with attention deficit hyperactivity disease (ADHD). METHODS: A prospective single arm intervention study was conducted on children aged 4-12 years, newly diagnosed with ADHD, attending the child development clinic in a tertiary centre in Northern India. A baseline hemogram and serum ferritin levels were assessed in all children. ADHD symptom severity was assessed with age-appropriate neuropsychometric questionnaires, and objective tests of attention at baseline and after six weeks of oral iron therapy. RESULTS: Out of 32 participants, 23 were found to be ferritin sufficient (serum ferritin > 30 ng/mL) at enrolment. There was no difference in the median scores of neuropsychometric tests at the baseline of ferritin sufficient and ferritin deficient children. A statistically significant change in median scores of inattention and hyperactivity subscale on Conner's Rating Scale (P = 0.036) as well as significant improvement on tests of attention; Children's Color Trails Test (CCTT) (P = 0.006) were observed after six weeks of iron therapy in all children. CONCLUSION: The study showed promising results of iron supplementation in the treatment of ADHD symptoms in children. Keywords: ADHD, Anemia, Inattention, Serum ferritin.
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Trastorno por Déficit de Atención con Hiperactividad , Hierro , Humanos , Masculino , Niño , Preescolar , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Hierro/administración & dosificación , Ferritinas/sangre , Gravedad del Paciente , Administración Oral , Resultado del Tratamiento , Estudios Prospectivos , Pruebas Neuropsicológicas , Atención/efectos de los fármacosRESUMEN
INTRODUCTION: Oral health care is essential yet challenging in children with autism spectrum disorder (ASD) due to their impaired emotional and behavioral stability, lack of communication skills, and inability to perform daily home hygiene routines properly. The present study was planned with the aim of assessing the Oral Health Status and Treatment Needs of children with ASD in comparison with children without any systemic disease. METHODS: A total of 160 children, in the age group of 5-14 years, divided equally into two groups, i.e., Group A (children with ASD) and Group B (children without any systemic disease), were assessed for Dental caries, Oral Hygiene Status, and Treatment Needs. The behavior of children in each group, during oral examination, was also assessed and recorded. Student t test and Chi square test were used for quantitative and qualitative analysis, respectively. RESULTS: The mean age of participating children was 7.96±2.43 years with a male predominance (male to female ratio - 1.58:1). Children with ASD displayed more negative behavior with 15% showing definitely negative behavior, 21.2% negative behavior on Frankl's Behavior Rating scale; the statistically lower prevalence of dental caries (Group A - mean decayed, missing and filled primary teeth (dmft): 1.7±3.2, mean decayed, missing and filled permanent teeth (DMFT): 0.19±0.71; Group B - mean DMFT: 5.44±4.88, mean DMFT: 1.01±1.51; p=0.0001), better oral hygiene (Group A - 18.8% showed good Simplified Oral Hygiene Index Score (OHI-S), 56.2% showed fair OHI-S; Group B - 6.2% showed good OHI-S and 46.3% showed fair OHI-S) and lower treatment needs compared to children without any systemic disease. CONCLUSION: Children with ASD showed better oral health and lower treatment needs. This suggests that introducing oral hygiene care and diet modifications in daily routine can significantly improve the Oral Health Status in children with ASD.
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We determined the burden of concomitant chronic non-epilepsy drug use in 100 consecutive outpatient children with a diagnosis of epilepsy (mean (SD) age 7.38 (3.24) y), taking anti-seizure medications (ASM) for at least 6 months. Majority (n = 68) of the children had comorbidities; most commonly global developmental delay (27%). 61 children were receiving chronic non-epilepsy drugs; most common being calcium (38%), multivitamins (18%) and folic acid (16%). Of these, 50 children (82%) were prescribed drugs without any documented indication. Another 24 children (39.4%) were using complementary and alternative medications. The observed chronic non-epilepsy drug use, many of which were not indicated, reiterates the need to limit the burden of medications in children with epilepsy.
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Anticonvulsivantes , Epilepsia , Humanos , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Niño , Femenino , Masculino , Preescolar , Anticonvulsivantes/uso terapéutico , Adolescente , India/epidemiología , LactanteRESUMEN
Introduction: The onset of the COVID-19 pandemic and subsequent lockdowns in March 2020 disrupted the lives of families across India. The lockdown related restrictions brought forth a multitude of challenges including loss of employment, social isolation, school closures and financial burdens. Specifically, it also resulted in the restriction of health-care services for children with neurodevelopmental disabilities. Methods: This qualitative study was conducted as a part of a larger trial in India to understand the experiences of families of young children with autism during the pandemic. In-depth interviews were carried out with 14 caregivers residing in New Delhi, India. Results: Our findings identified pandemic and lockdown's universal impacts on family life and financial stability stemming from job loss, business closure, and salary deductions, affecting quality of life of families. Furthermore, COVID-19 pandemic's impact on autistic children was evident through limited access to essential services and financial challenges related service interruptions even after resumption of services. The lockdown's novelty also affected children's behavior, with both challenging behavioral changes and positive impacts. Primary caregivers, predominantly mothers, assumed additional responsibilities in household tasks, schooling, and therapy administration. While some these experiences were universally experienced, a few of these improved outcomes for autistic children. Despite challenges, parents expressed gratitude for their family's safety and well-being during the difficult time. Discussions: These findings inform service provision for vulnerable families and offer implications for designing interventions such as credit schemes for families, guidance and resources for establishing and maintaining routines of children with autism, adopting flexible and adaptable approaches to service delivery, and special provisions for children with autism to be able to maintain their routines outside of home. Furthermore, the study highlights the need for comprehensive support, including educational resources and stress management counselling to empower parents in supporting essential care and routines for their children during such unprecedented times.
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Trastorno del Espectro Autista , COVID-19 , Preescolar , Humanos , Trastorno del Espectro Autista/epidemiología , COVID-19/epidemiología , Pandemias , Padres , Calidad de Vida , Investigación CualitativaRESUMEN
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.
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Trastorno del Espectro Autista , Niño , Humanos , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Trastorno del Espectro Autista/psicología , Padres/psicología , PediatrasRESUMEN
OBJECTIVE: To compare the efficacy of propranolol prophylaxis with placebo on headache frequency in children with migraine over the 3-mo follow-up. METHODS: In this randomized, double-blind, placebo-controlled trial children aged 6-12 y with newly diagnosed migraine without aura as per the International Classification for Headache Disorders, 3rd edition (ICHD-3) criteria were enroled. They were randomized to the intervention group receiving oral propranolol (1-3 mg/kg/d, BID) and the control group receiving a similar looking, inert, oral placebo for migraine prophylaxis for 3 mo. The number of migraine attacks over the 3-mo follow-up (using a headache diary) was the primary outcome. Pediatric Migraine Disability Assessment Scale (PedMIDAS) was used for assessing disability and Visual analogue scale was used for assessing headache severity. Analysis was done on intention-to-treat basis. RESULTS: Twenty children (10 in each group) completed the study. The two groups were similar at baseline. Both the study drugs produced significant reduction of headache frequency after the study intervention (p = 0.002). However, there was no difference between the two groups with respect to either the median (IQR) number of headache attacks [22 (20, 25) vs. 14 (10, 20); p = 0.05], headache severity [1 (0, 1) vs. 0.5 (0, 1); p = 0.48] or migraine disability [39.5 (28, 44) vs. 35 (22, 38); p = 0.27]. Adverse effects were higher in the intervention group (p = 0.52). CONCLUSIONS: Propranolol was effective for migraine prophylaxis in children but the effect was not higher than placebo. Larger placebo-controlled trials of propranolol need to be conducted to decide its place in migraine prophylaxis in children. TRIAL REGISTRATION: Thailand Clinical Trials Registry; TCTR20200621001.
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Migraña sin Aura , Propranolol , Humanos , Niño , Propranolol/uso terapéutico , Migraña sin Aura/tratamiento farmacológico , Migraña sin Aura/prevención & control , Cefalea , Dimensión del Dolor , Método Doble Ciego , Resultado del TratamientoRESUMEN
OBJECTIVE: To compare the quality of life (QoL) of adolescent siblings of children with autism spectrum disorder (ASD-Sibs) with siblings of typically developing children (TD-Sibs), and study the factors affecting the QoL. METHODS: Between 1 February, 2021 and 31 September, 2021, 40 children aged 10-18 years, whose sibling was suffering from ASD, were enrolled (Study group). 40 age- and sex-matched siblings of children with no clinically apparent neuro- developmental abnormality or behavioral problem were also enrolled (Control group). Severity of autism was assessed by using the childhood autism rating scale 2 (CARS-2) score. QoL was assessed by a validated version of the World Health Organi-zation Quality of Life questionnaire Brief version (WHO QoL BREF), and compared between cases and controls using Wilcoxon rank sum test. RESULTS: The mean (SD) age of study participants was 13.55 (2.75) years. The mean (SD) CARS-2 score of our sample was 35.78 (5.23). Mild to moderate autism was seen in 23 (57.5%) children, and 13 (32.5%) had severe autism. The median (IQR) QoL in ASD-Sibs was worse than TD-Sibs in physical domain (24 (19,26) vs 32 (29,32); P<0.001), psychological domain (22 (17,23) vs 25 (23,25); P<0.001), social domain (11 (8,12) vs 13 (11,14); P<0.001), and environmental domain (28 (26,31) vs 35 (31,35); P<0.001). Among the ASD-Sibs, severity of the sibling's ASD and the family's socioeconomic status were the only two factors significantly affecting one of the domains of QoL. CONCLUSION: The observed lower QoL score in adolescent siblings of children with ASD, more so in those whose siblings had more severe ASD, suggests the need for targeting the family as a unit while formulating plans for holistic management of children with ASD.
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Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Niño , Adolescente , Hermanos/psicología , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/psicología , Calidad de Vida/psicología , AnsiedadRESUMEN
Autoimmune encephalitis with anti-NMDA (N-methyl-D-aspartate) receptor encephalitis is the most common type. This condition can be associated with underlying malignancy, making appropriate screening essential. Prompt identification and intervention of autoimmune encephalitis is essential for a successful outcome and full recovery from this serious and potentially fatal condition. Immunotherapy is typically used to suppress the immune response and reduce brain inflammation. The choice of therapy depends on the type and severity of autoimmune encephalitis, as well as the presence of an underlying tumour.
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Enfermedades Autoinmunes del Sistema Nervioso , Encefalitis , Enfermedad de Hashimoto , Humanos , Encefalitis/diagnóstico , Enfermedad de Hashimoto/diagnóstico , Enfermedad de Hashimoto/terapia , Inmunoterapia , AutoanticuerposRESUMEN
OBJECTIVES: To study the neurodevelopmental status of offsprings of mothers with gestational diabetes (OGDM) aged 3½ mo. METHODS: This cross-sectional study was conducted at a tertiary hospital, New Delhi which included infants aged 3½ mo (+1 wk) who were either offsprings of women with gestational diabetes (cases) or infants of mothers without gestational diabetes mellitus presenting to tertiary care public hospital in India from January, 2018 through March, 2019, with enrollment of infants done between 10 April, 2018 and 30 March, 2019. RESULTS: The development quotient (DQ) using Developmental Assessment Scales for Indian Infants (DASII) was calculated as Motor DQ, Mental DQ and a composite DQ. The mean motor DQ of the enrolled infants was 101.7 (12.02); it was significantly lower for OGDM than controls [101 (1.41) vs. 109.5 (10.6); P <0.001]. The mean mental DQ of the enrolled infants was 88.9 (12.0); it was significantly lower for OGDM than the control group [84 (9.89 vs. 88 (8.48); P = 0.03]. The total development quotient for the enrolled infants was 95.3 (11.3). The total development quotient for study group was significantly lower than the control group [92.5 (5.65) vs. 98.75 (9.54); P = 0.001]. CONCLUSIONS: The mean motor, mental total DQ of offsprings of mothers with GDM were significantly lower than those born to mothers without GDM. Hence follow up, early intervention should be considered for this high risk group.
Asunto(s)
Diabetes Gestacional , Embarazo , Lactante , Humanos , Femenino , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiología , Estudios Transversales , Madres , India/epidemiología , Intervención Educativa PrecozRESUMEN
The present study was designed to evaluate the spectrum of imaging findings seen on chest ultrasonography in patients presenting with dyspnea and verify the concordance between chest X-ray and chest ultrasound. Methods Fifty-three patients presenting with dyspnea were included in this study. Patients with known/suspected cardiac disease were excluded from the study. All patients underwent chest X-ray and chest ultrasound, reported by two different investigators. The concordance was analyzed using Cohen's kappa value with a ' p -value' less than 0.05 considered statistically significant. Results Among the fifty-three patients with dyspnea, five diagnostic pathologies were evaluated. Concordance between lung ultrasound and chest X-ray for diagnosis of pneumonia, pneumothorax, acute exacerbation of COPD/severe asthma, and diffuse alveolar interstitial syndrome was found to be high with Cohen's kappa value > 0.8 ( p < 0.01). Ultrasound was able to correctly diagnose more cases of pneumothorax and pulmonary edema compared with chest X-ray with sensitivity and negative predictive value of 100%. Chest X-ray was found to be superior in correctly diagnosing COPD. The difference was, however, not statistically significant. Similarly, no statistically significant difference could be inferred between the diagnostic value of ultrasound and Chest X-ray in the diagnosis of pneumonia or pleural effusion. Conclusions A high concordance was noted between ultrasound and chest X-ray for diagnosis of all pathologies studied ( p < 0.01), the highest noted in pneumonia/pleural effusion and diffuse interstitial syndrome (κ = 0.9). Hence, ultrasound may be considered a complimentary imaging modality for Chest-X-ray in the evaluation of dyspnea.
RESUMEN
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 (0.25-0.52âmg/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, pâ<â0.0001), and 64% of participants gained motor milestones. GMFM scores increased significantly from a median of 19.8% pre-intervention to 26.5% post-intervention (pâ<â0.0001). There was improvement in the fine motor domain as compared to the baseline (pâ<â0.0001). 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.