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PURPOSE: Newborn screening is the need of the hour in a developing country like India as there is paucity of data from studies conducted in government hospitals with large sample size. The purpose of the study is to estimate incidence rate and recall rates for five conditions screened in the neonatal period namely congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia and phenyl ketonuria (PKU). METHODS: The study was conducted at VaniVilas Hospital attached to Bangalore Medical College and Research Institute. A retrospective analysis of the results of newborn screening programme during a 3-year period between January 2016 and December 2018 was done. There were 47 623 livebirths during this period out of which 41 027 babies were screened (coverage-86% of total livebirths). Heelprick samples after 48 h of life and prior to discharge were analysed by quantitative assessment. Neonates having positive screening results were recalled by telephonic call for repeat screening and confirmatory tests. RESULTS: G6PD deficiency was the most common disorder with an incidence of 1:414, followed by congenital hypothyroidism and Congenital Adrenal Hyperplasia with an incidence of 1:2735 and 1:4102, respectively. Galactosemia and PKU were found to be rare in our population. The overall average recall rate was 0.6% which meant that 24 normal newborns were recalled for testing for one confirmed case. The recall rate was relatively higher for galactosemia and G6PD deficiency which was at 0.25% each compared to the other conditions where it was below 0.05%. CONCLUSION: The results of the study emphasize the need for universal newborn screening especially in all government hospitals with large birth cohorts.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Hipotiroidismo Congénito/diagnóstico , Galactosemias/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Cetosis/diagnóstico , Tamizaje Neonatal/métodos , Hiperplasia Suprarrenal Congénita/epidemiología , Hipotiroidismo Congénito/epidemiología , Femenino , Galactosemias/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Humanos , Incidencia , India/epidemiología , Recién Nacido , Cetosis/epidemiología , Masculino , Evaluación de Programas y Proyectos de SaludRESUMEN
INTRODUCTION: Acute flaccid myelitis (AFM) is characterized by limb weakness with spinal cord grey matter lesion on imaging or electrodiagnostic evidence of spinal cord motor neuron injury. This Poliomyelitis-like illness is rare in children, and its natural course is not yet well defined. PURPOSE OF THE STUDY: The purpose of the study was to report the clinical presentation, laboratory findings, management and outcome of children with AFM. MATERIALS AND METHODS: This is a prospective case series study. RESULTS: Nine children met the case definition given by CDC. All cases presented with prodromal symptoms followed by acute onset asymmetrical limb weakness. Maximum weakness is reached within 4 days from the day of onset. Cerebrospinal fluid analysis shows that pleocytosis with viral markers for arboviruses and enteroviruses was negative. Electrophysiological study revealed decreased muscle action potential in all. MRI of the spinal cord showed predominantly grey matter involvement. CONCLUSION: AFM should be one of the differential diagnoses in any child presenting with acute flaccid paralysis.
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Encéfalo/diagnóstico por imagen , Enfermedades Virales del Sistema Nervioso Central/diagnóstico , Sustancia Gris/diagnóstico por imagen , Leucocitosis/líquido cefalorraquídeo , Mielitis/diagnóstico , Enfermedades Neuromusculares/diagnóstico , Parálisis/etiología , Administración Intravenosa , Administración Oral , Antiinflamatorios , Enfermedades Virales del Sistema Nervioso Central/tratamiento farmacológico , Enfermedades Virales del Sistema Nervioso Central/epidemiología , Niño , Preescolar , Femenino , Sustancia Gris/parasitología , Humanos , India/epidemiología , Imagen por Resonancia Magnética , Masculino , Metilprednisolona/administración & dosificación , Metilprednisolona/uso terapéutico , Mielitis/tratamiento farmacológico , Mielitis/epidemiología , Enfermedades Neuromusculares/tratamiento farmacológico , Enfermedades Neuromusculares/epidemiología , Prednisolona/administración & dosificación , Prednisolona/uso terapéutico , Estudios Prospectivos , Centros de Atención Terciaria , Resultado del TratamientoRESUMEN
Rubella infection during pregnancy can result in miscarriage, fetal death, stillbirth, or a constellation of congenital malformations known as congenital rubella syndrome (CRS). The 11 countries in the World Health Organization (WHO) South-East Asia Region are committed to the elimination of measles and control of rubella and CRS by 2020. Until 2016, when the Government of India's Ministry of Health and Family Welfare and the Indian Council of Medical Research initiated surveillance for CRS in five sentinel sites, India did not conduct systematic surveillance for CRS. During the first 8 months of surveillance, 207 patients with suspected CRS were identified. Based on clinical details and serologic investigations, 72 (34.8%) cases were classified as laboratory-confirmed CRS, four (1.9%) as congenital rubella infection, 11 (5.3%) as clinically compatible cases, and 120 (58.0%) were excluded as noncases. The experience gained during the first phase of surveillance will be useful in expanding the surveillance network, and data from the surveillance network will be used to help monitor progress toward control of rubella and CRS in India.
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Síndrome de Rubéola Congénita/diagnóstico , Síndrome de Rubéola Congénita/epidemiología , Virus de la Rubéola/aislamiento & purificación , Vigilancia de Guardia , Adolescente , Adulto , Femenino , Humanos , India/epidemiología , Lactante , Recién Nacido , Masculino , Embarazo , Virus de la Rubéola/genética , Adulto JovenRESUMEN
INTRODUCTION: Infantile tremor syndrome (ITS) is characterized by anaemia, skin depigmentation, tremors and developmental delay. The lack of sufficient literature on ITS and its conflicting association with vitamin B12 deficiency made us present this article. OBJECTIVE: The objective of this study is to describe demographic, clinical and laboratory profile and outcome of ITS. METHODS: This is a retrospective chart review of all children presenting with typical features of ITS attending a tertiary paediatric centre in southern India between January 2014 and January 2017. All children with pallor, skin depigmentation and developmental delay, with/without tremors, were included. Anaemia, developmental delay and tremors secondary to non-nutritional causes like metabolic causes were excluded. RESULTS: Of 70 children, 66 were exclusively breastfed and 46 mothers were vegetarians. Mean age of presentation was 13.2 months. Developmental delay was noted in 64, regression in 6 and tremors in 40. Vitamin B12 levels were low in 62 cases. CONCLUSION: ITS should be considered in children <3 years with anaemia, developmental delay/regression and skin depigmentation, with/without tremors. ITS can be seen in < 3 months of age and in high socio-economic status.
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Dieta Vegetariana/efectos adversos , Desnutrición/complicaciones , Temblor/etiología , Deficiencia de Vitamina B 12/diagnóstico , Lactancia Materna , Preescolar , Femenino , Humanos , India , Lactante , Masculino , Estudios Retrospectivos , Factores Socioeconómicos , Atención Terciaria de Salud , Temblor/diagnóstico , Temblor/tratamiento farmacológico , Deficiencia de Vitamina B 12/etiologíaRESUMEN
Background West's syndrome (WS) is a triad of epileptic spasms (ESs), psychomotor delay, and hypsarrhythmia. The treatment of ESs is still controversial. Hence, we designed a randomized controlled trial (RCT) to compare the outcomes in children with WS treated with adrenocorticotropic hormone (ACTH) alone versus ACTH and levetiracetam (LEV). Objectives To compare the treatment outcomes and side effects in children treated with ACTH alone versus ACTH and LEV. Methods This prospective randomized controlled trial was conducted from December 2017 to May 2019 in tertiary care center, Bangaluru. Children from 2 months to 5 years of age, diagnosed with WS were included. Fifty children in each group were analyzed for efficacy and side effects. Results There was no difference in the baseline characteristics in both groups. There was no difference in spasms response at the end of 2 weeks between the groups (88 vs. 82%) with p -value of 0.813. The relapse rates were less in ACTH and LEV group (20%) compared with ACTH alone (22%) but statistically not significant ( p > 0.1). There was no difference observed in subsequent epilepsy rates (18%) in ACTH versus 19% in ACTH with LEV group ( p > 0.1) and side effects. There was improvement in milestones 48% in ACTH with LEV group versus 37% in ACTH alone however statistically not significant ( p > 0.1). Conclusion There was no difference in children treated with ACTH alone versus ACTH and LEV in terms of control of spasms and subsequent epilepsy rates. The relapse rate is less, and developmental outcome is better in ACTH with LEV group but statistically not significant.
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Objectives: Post-Diphtheritic Paralysis (PDP), one of the most severe complications of diphtheria, is caused by exotoxin of Corynebacterium diphtheria. This study was planned since there has been a resurgence of diphtheria in India in recent years due to a number of epidemiological factors. Materials & Methods: Thirty-five children with PDP were studied in a tertiary care hospital in Southern India. Result: Neurological complications occurred in 38.5% of 91 patients with faucial diphtheria. Of the patients, 13 (37.1%) were unimmunized, 12 (34.3%) were partially immunized, two (5.7%) were completely immunized, and eight (22.6%) had unknown status. Isolated bulbar palsy and bulbar palsy followed by limb weakness were seen in 20 (57.1%) and 15 (42.9%) of the patients, respectively. The first symptoms of PDP occurred 5-34 days after the onset of local diphtheria infection. Eleven (31.4%) out of the 35 patients had received antitoxin between days 5-7 of illness. Ventilation-dependent respiratory failure occurred in three (8.6%) patients with PDP. Nine (25.7%) patients had evidence of co-existent myocarditis, while myocarditis with renal failure was seen in two (5.7%) patients. Four (11.4%) patients died, three from severe cardiomyopathy and one from aspiration. Demyelinating neuropathy was noted in 64% of the patients. Children with bulbar palsy recovered in 4-7 weeks, while limb symptoms improved in 6-17 weeks. Conclusion: PDP should be considered in any child presenting with bulbar palsy/quadriparesis following previous history of fever/sore throat. Awareness and availability with timely administration of ADS within 48 hours are essential to reduce PDP, as antitoxin seems ineffective if administered after the second day of diphtheritic symptoms.
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OBJECTIVES: The study attempts to characterize the clinical, demographic, risk factors, electroencephalographical, and neuroimaging features of hot-water epilepsy (HWE) in children. METHODS: This is a hospital-based observational study in the pediatric neurology clinic and who met the clinical definition of hot-water epilepsy were studied from January 2017 to October 2018. Clinical history, demographic data, and examination findings were recorded in a pre-structured proforma. Electroencephalography (EEG) and neuroimaging were carried out. RESULTS: A total of 68 children with male to female ratio of 2.4:1 were studied. The most common age of onset of seizures was between 1 and 5 y. Focal seizures with impaired awareness were the most common semiology (48.5%). Abnormal EEG was detected in 13.2% and abnormal neuroimaging in 4.4% which consisted of incidental abnormalities. Nonreflex seizures occurred in 35.3% of the children with HWE and the risk factors associated with this were not statistically significant. Clobazam before taking bath helped to achieve seizure control in 85.7% of the children. CONCLUSION: Hot-water epilepsy should be suspected in children who develop seizures following a hot-water bath. The most common age of onset is 1-5 y. EEG and neuroimaging are normal in the majority of cases. Nonreflex seizures occurred in 35.3% of the children.
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Epilepsia , Niño , Demografía , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/epidemiología , Femenino , Humanos , Masculino , Convulsiones , AguaRESUMEN
OBJECTIVES: The aim of this study was to compare the efficacy and safety of intravenous levetiracetam and fosphenytoin in the management of pediatric status epilepticus. MATERIALS AND METHODS: This is an open-labeled randomized controlled trial, conducted at tertiary care pediatric intensive care unit. Subjects between 1 month and 18 years who presented with status epilepticus were enrolled. If seizures persisted even after two doses of lorazepam, participants were randomized to receive either fosphenytoin 30âmg/kg or levetiracetam 30âmg/kg intravenously and followed up till 48h, for seizure recurrence and adverse drug effects. Outcome measures were cessation of seizures within 10-20âmin following the end of the infusion of drugs fosphenytoin and levetiracetam, respectively, and no recurrence of seizures was noted over next 48h. RESULTS: Subjects in both study groups were comparable in baseline characteristics. Seizures stopped in 54 (93.1%) and 53 (91.4%) in fosphenytoin and levetiracetam groups, respectively (P = 1.000). Seizure recurrence was noted in 13 (22.4%) and 10 (17.2%) patients in fosphenytoin and levetiracetam groups, respectively (n = 0.485). In fosphenytoin group, one (1.7%) child had bradycardia, two (3.4%) children required inotropes, and three (5.2%) children required intubation. In levetiracetam group, none had bradyarrhythmia, required inotropes, and intubation was required in one (1.7%) child each. No statistically significant difference was observed in outcome parameters in two groups. CONCLUSION: Levetiracetam is as efficacious as fosphenytoin in control of pediatric status epilepticus and is associated with lesser side effects.
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Anomalías Múltiples/diagnóstico , Parálisis Cerebral/diagnóstico , Enanismo/diagnóstico , Cuadriplejía/diagnóstico , Parálisis Cerebral/complicaciones , Preescolar , Pie Equinovaro/diagnóstico , Diagnóstico Diferencial , Enanismo/complicaciones , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Espasticidad Muscular/fisiopatología , Cuadriplejía/etiología , Medición de Riesgo , Escoliosis/congénito , Escoliosis/diagnósticoRESUMEN
INTRODUCTION: Seizure is the most common neurological illness in pediatric population and its risk is highest in the first year of life. Studies regarding etiology of afebrile seizures worldwide and in India are limited; hence, the current study was undertaken. OBJECTIVE: The objective of this work was to study the etiology of afebrile seizures in infants aged 1 month to 1 year. MATERIALS AND METHODS: A retrospective study of afebrile infantile seizure was conducted at pediatric neurology outpatient department between January 2015 and September 2017. All children with first episode of afebrile seizures were included. Biochemical and hematological investigations, imaging, and electroencephalogram were performed whenever necessary. Simple descriptive statistics were used to analyze the data in the form of frequencies with percentages and median as applicable. RESULTS: One hundred twenty-one children with a mean age of 8.1 months were analyzed. Of these children, 58% were males. Positive family history was found in 1.65% children, developmental delay in 70%, and dysmorphism in 8%. Presenting seizure type were generalized (74%), focal (21%), and unknown (6%) onset. Etiology was deducible in 92% cases. Structural etiology was the most common (66%), followed by metabolic (12%), infections (7%), and others (6%). In structural pathology, common causes were perinatal insult (38%) and cerebral malformations (18%). Imaging was done in 98 cases and yield was 83% (85 cases). CONCLUSION: Etiology was deducible in 92% of children. Seizures due to structural etiology, secondary to perinatal insult followed by metabolic and infections, are important causes. Imaging aids are important in etiological diagnosis. Etiological evaluation should be considered in children following first episode of afebrile seizures, especially in developing countries like India.
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INTRODUCTION: Demyelinating disorders of central nervous system are rare childhood disorders that cause significant physical and cognitive disabilities. Early diagnosis and appropriate treatment determines prognosis and outcome. OBJECTIVE: The objective of this work was to study clinical profile, investigative and radiological features, treatment, and outcome of children with demyelinating disorders. MATERIALS AND METHODS: A retrospective chart review of 32 children with demyelinating disorders admitted in a tertiary-care pediatric hospital from Bangalore between November 2013 and October 2017 was conducted. Sociodemographic data, clinical features, cerebrospinal fluid (CSF) findings, radiological features, treatment received, and outcome were collected and results were analyzed. RESULTS: Among 32 patients of demyelinating disorders, majority were acute disseminated encephalomyelitis (ADEM) (15, 46.9%), followed by transverse myelitis (9, 28.1%), multiple sclerosis (MS) (3, 9.4%), optic neuritis (3, 9.4%), and neuromyelitis optica (NMO) (2, 6.2%). Mean age of presentation was 7.8 years. Among 32 patients, 15 were male (47%). In patients with ADEM, the mean age of presentation was 5.5 years. Two patients had tumefactive ADEM and 10 recovered after steroid therapy. In patients with MS, the mean age of presentation was 10.6 years; one patient died and the condition of two patients improved. In patients with transverse myelitis, the mean age of presentation was 8.9 years and seven patients recovered. In a patient with NMO, CSF was positive for antibody to aquaporin-4. The child improved with steroids and intravenous immunoglobulin. Three patients with optic neuritis were treated with steroids and they recovered. CONCLUSION: Even though demyelinating disorders are rare in pediatric age group, one should be aware of this entity as early diagnosis and treatment improves outcome. Most common among them is ADEM.
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OBJECTIVE: To compare the outcomes of adrenocorticotrophic hormone (ACTH) and Prednisolone therapy in children with West syndrome. METHODS: The study was done at a tertiary health centre for children. The pediatric neurologist at the centre enrolled children into the study based on the inclusion and exclusion criteria. They were evaluated in detail, classified according to etiologic type and then, randomly assigned into two treatment groups, either ACTH or Prednisolone. They were followed at regular intervals till 6 mo. RESULTS: There was no difference between ACTH and Prednisolone groups with respect to all the outcomes measured. Cessation of spasms was achieved in 6/15 (40%) in Prednisolone group and 9/18 (50%) in ACTH group (p = 0.3906). The average time for achieving cessation was 6.9 and 8 d in ACTH and Prednisolone groups respectively (p = 0.7902). The relapse rates were 18.18 and 50% in ACTH and Prednisolone groups respectively (p = 0.28). The side-effects profile, subsequent epilepsy rates and improvement in milestones were similar in both the treatment groups. CONCLUSIONS: There is no significant difference in children treated with ACTH and Prednisolone. Study results cannot be generalized due to small sample size. However, Prednisolone can be a suitable alternative to ACTH in resource poor settings.
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Hormona Adrenocorticotrópica/uso terapéutico , Prednisolona/uso terapéutico , Espasmos Infantiles/tratamiento farmacológico , Hormona Adrenocorticotrópica/efectos adversos , Preescolar , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Epilepsia , Femenino , Humanos , India/epidemiología , Lactante , Masculino , Prednisolona/efectos adversos , Método Simple Ciego , Espasmo , Espasmos Infantiles/epidemiología , Resultado del TratamientoRESUMEN
OBJECTIVE: To compare the efficacy and safety of intravenous Levetiracetam and Phenobarbitone in the treatment of neonatal seizures. DESIGN: Open labelled, Randomized controlled trial. SETTING: Level III Neonatal Intensive Care Unit (NICU). PARTICIPANTS: 100 neonates (0-28 days) with clinical seizures. INTERVENTION: If seizures persisted even after correction of hypoglycemia and hypocalcemia, participants were randomized to receive either Levetiracetam (20 mg/kg) or Phenobarbitone (20 mg/kg) intravenously. The dose of same drug was repeated if seizures persisted (20 mg/kg of Levetiracetam or 10 mg/kg of Phenobarbitone) and changeover to other drug occurred if the seizures persisted even after second dose of same drug. MAIN OUTCOME MEASURES: Cessation of seizures with one or two doses of the first drug, and remaining seizure-free for the next 24 hours. RESULTS: Seizures stoped in 43 (86%) and 31 (62%) neonates in Levetiracetam and Phenobarbitone group, respectively (RR 0.37; 95%CI 0.17, 0.80, P<0.01). 10 neonates had adverse reactions in the phenobarbitone group (hypotension in 5, bradycardia in 3 and requirement of mechanical ventilation in 2 neonates) while none had any adverse reaction in Levetiracatam group. CONCLUSIONS: Levetiracetam achieves better control than Phenobarbitone for neonatal seizures when used as first-line antiepileptic drug, and is not associated with adverse drug reactions.
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INTRODUCTION: Basal ganglia stroke following trauma has been known to occur and described in previous case studies. But exact etiology is unknown. AIM: To study the clinical characteristics, imaging features, and neurodevelopmental outcomes of children presented with basal ganglia stroke associated with mineralization in the lenticulostriate arteries in our center from January 2013 to June 2016. SUBJECTS AND METHODS: Children with subcortical stroke during the study period were identified retrospectively, and those presented with basal ganglia stroke with mineralization of lenticulostriate vessels were analyzed for clinical profile, imaging features, and outcomes. Statistical analysis was carried out using the Statistical Package for the Social Sciences (SPSS) software, version 17 (IBM, New York). RESULTS: Of 38 children with basal ganglia stroke (20 boys, 18 girls, and mean age at presentation 14.026±5.8470 months), 27 had history of trauma preceding the stroke. Thirty-seven children presented with hemiparesis and one presented with hemidystonia. The mean follow-up time was 8 months, three children developed recurrence during that period. Five children with recurrence of stroke, initial episodes were not evaluated as they presented to us for the first time. A total of 17 of 30 infants who did not have stroke recurrence were normal on follow-up, whereas 9 infants showed persistent mild hemiparesis, 2 had motor delay, and 2 others had mild residual distal weakness. No identifiable causes were observed for vascular calcification. Two familial cases were also noted. CONCLUSION: Most common cause for acute basal ganglia stroke in toddlers was mineralizing angiopathy of lenticulostriate vessels. It was preceded by minor trauma in most cases.
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BACKGROUND: We conducted a sero-survey among pregnant women attending antenatal clinics of six hospitals which also function as sentinel sites for CRS surveillance, to estimate the prevalence of IgG antibodies against rubella. METHODS: We systematically sampled 1800 pregnant women attending antenatal clinics and tested their sera for IgG antibodies against rubella. We classified sera as seropositive (titre ≥10â¯IU/ml), sero-negative (titre <8â¯IU/ml) or indeterminate (titre 8-9.9â¯IU/ml) per manufacturer's instructions. In a sub-sample, we estimated the titers of IgG antibodies against rubella. IgG titer of ≥10â¯IU/mL was considered protective. RESULTS: Of 1800 sera tested, 1502 (83.4%) were seropositive and 24 (1.3%) were indeterminate and 274 (15.2%) were sero-negative. Rubella sero-positivity did not differ by age group, educational status or place of residence. Three hundred and eighty three (87.8%) of the 436 sera had IgG concentrations ≥10â¯IU/mL. CONCLUSION: The results of the serosurvey indicate high levels of rubella sero-positivity in pregnant women. High sero-prevalence in the absence of routine childhood immunization indicates continued transmission of rubella virus in cities where sentinel sites are located.
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Anticuerpos Antivirales/sangre , Complicaciones Infecciosas del Embarazo/epidemiología , Rubéola (Sarampión Alemán)/epidemiología , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Inmunoglobulina G/sangre , India/epidemiología , Embarazo , Mujeres Embarazadas , Prevalencia , Virus de la Rubéola , Vigilancia de Guardia , Estudios Seroepidemiológicos , Centros de Atención Terciaria , Vacunación/estadística & datos numéricos , Adulto JovenRESUMEN
A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on fluid-attenuated inversion recovery images. Clinical exome sequencing revealed a novel homozygous mutation c.1270T>G: pCys424Gly in exon 11 of the EIF2B3 gene. This novel mutation is reported in this article along with a literature review.
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A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.
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Mucolipidosis/genética , Mutación Missense/genética , Neuraminidasa/genética , Niño , Consanguinidad , Homocigoto , Humanos , MasculinoRESUMEN
BACKGROUND: Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly. PATIENT DESCRIPTION: We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly. RESULTS: MRI brain revealed diffuse involvement of the supra tentorial white matter, globus pallidi, thalami, dentate nuclei and brainstem with sparing of the corpus callosum. The genetic testing revealed homozygous mutation of aspartoacylase gene [c.859 G>A (p.Ala287Thr)] in Exon 6. CONCLUSION: Possibility of Canavan disease should be considered even in the presence of microcephaly.
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Encéfalo/diagnóstico por imagen , Enfermedad de Canavan/diagnóstico , Microcefalia/diagnóstico , Amidohidrolasas/genética , Enfermedad de Canavan/genética , Enfermedad de Canavan/fisiopatología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Diagnóstico Diferencial , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Microcefalia/genética , Microcefalia/fisiopatología , Convulsiones/diagnóstico , Convulsiones/genética , Convulsiones/fisiopatologíaRESUMEN
INTRODUCTION: In children, health-related quality of life (HRQOL) includes parental impact and family functioning along with concepts of illness, functional status, mental health, and comfort. We are focusing on the impact of cerebral palsy (CP) on children's HRQOL and their families, and its relationship with gross motor dysfunction. SUBJECTS AND METHODS: CP children aged 3-10 years under regular neurology follow-up were enrolled. The HRQOL and motor severity were prospectively assessed using lifestyle assessment questionnaire-CP and gross motor function classification systems, respectively. RESULTS: One hundred children participated in this study. Thirty-three percent of children had good, 22% had mildly affected, whereas 45% had moderately to severely affected HRQOL. A significant association is present between gross motor function classification system and HRQOL. CONCLUSION: HRQOL in CP and their caregivers is highly impaired. The degree of impairment is associated with physical independence, mobility, clinical burden, and social integration dimensions. Therapies targeting these dimensions and associated comorbidities will improve the HRQOL. Gross motor function classification system is a good indicator of HRQOL.