ABSTRACT
Rare diseases form the bulk of the financial expenditure of any developing or developed economy. Among the various rare diseases, paediatric neuromuscular disorders form a major portion, with a worldwide survey estimating a prevalence of 1 in 3500 individuals. In a lower middle-income country (LMIC) like India, malnutrition still accounts for most of the under-5 mortality. However, the economic burden of rare paediatric neuromuscular disorders cannot be underestimated. The treating physician should have a basic understanding of how to approach a child presenting with weakness and how to utilise the available tests which are affordable in an LMIC setting. History and examination still form the core, and with new diagnostic methods like nextgeneration sequencing, more and more rare disorders are getting diagnosed. It is important for the treating physician to know about basic supportive care, recent advancements, and available treatment options for these conditions. With exciting new treatment options being available for these disorders, the perception of these diseases as being not treatable is gradually changing. This review aims to be of guidance to clinicians from an LMIC setting like India and to empower them to manage such rare paediatric neuromuscular disorders.
Subject(s)
Rare Diseases , Child , Humans , Delivery of Health Care , India/epidemiology , Rare Diseases/diagnosis , Rare Diseases/epidemiology , Rare Diseases/geneticsABSTRACT
This study aims to analyze the prevalence and patterns of sensory processing deficits (SPD) in Indian children with spastic cerebral palsy (CP) using child sensory profile-2 (CSP-2) caregiver questionnaire. The authors surveyed 230 caregivers of children aged 3 to 14 y with spastic CP, using CSP-2. The difference in prevalence and distribution of SPDs among the CP subtypes and Gross Motor Function Classification System (GMFCS) levels was done. Overall prevalence of "Definite" (>2 SD) SPDs was 83%. Forty-seven percent had definite SPDs in more than one sensory subsection. Prevalence of definite SPDs was similar among the spastic CP subtypes. "Conduct" domain had more affection among hemiplegics and quadriplegics. "Avoiding" pattern was observed more in quadriplegics and "Seeking" pattern was observed less in diplegics. Severe GMFCS levels had more definite sensory processing deficits. SPDs are highly prevalent in children with spastic CP with unique patterns of affection among the spastic CP subtypes.
ABSTRACT
BACKGROUND: Sensory processing refers to receiving, organizing, and interpreting sensory stimuli from the sensory system. Unlike other neurodevelopmental disorders, knowledge about the sensory processing abilities of children with cerebral palsy (CP) is lacking. OBJECTIVE: To study the difference in sensory processing abilities of children with cerebral palsy in comparison to age matched typically developing children (TDC). METHODS AND MATERIAL: A cross-sectional analysis of sensory processing abilities of children with CP and TDC was performed from July 2018 through February 2020. The child sensory profile2 (CSP2) caregiver questionnaire was used to detect sensory processing differences (SPD) across nine sensory domains and four sensory processing patterns. A comparison was made between the two study groups as well as between the CP subtypes. RESULT: Around 226 children with CP and 58 TDC were screened. Finally, 150 children with CP and 50 TDC were enrolled. Probable SPD (>1SD) was observed in (121/150) 80.7% of children with CP compared to (13/50) 26% in TDC (p < 0.001). Definite SPD (>2SD) was seen in 40.7% (61/150) of children with CP vs. none in TDC (p < 0.001). The body position domain which tests the vestibular and proprioceptive processing was primarily affected in CP. Most children with CP fell under the "bystander" pattern suggesting poor registration of sensory stimuli. No significant difference in the pattern of sensory processing was observed between the CP subtypes. Prevalence of definite SPD positively correlated with the gross motor functional classification system level. CONCLUSION: Sensory processing abilities of children with CP differ significantly from TDC. Proprioceptive and vestibular sensory processing is primarily affected in CP.
Subject(s)
Cerebral Palsy , Humans , Cerebral Palsy/physiopathology , Cross-Sectional Studies , Female , Male , Child , Child, Preschool , Proprioception/physiologyABSTRACT
A 3-year-old boy presented with acute headache, vomiting and right focal clonic seizures without history of fever, joint pain or altered sensorium. Neuroimaging showed multifocal contrast enhancing lesions with significant perilesional edema. CECT chest and abdomen showed multiple variable sized nodules in the lungs and hypodense lesion in liver with mesenteric lymphadenopathy. There was persistent eosinophilia with maximum upto 35 %. Liver biopsy and brain biopsy revealed Cladophialophora bantiana. He was treated with IV liposomal amphotericin and voriconazole for 6 weeks with repeat neuroimaging showing more than 50 % resolution of the intracranial lesions. He was transitioned to oral combination of flucytosine and voriconazole. At 14 months follow-up, he remained symptom free with complete radiological resolution of the lesions and no eosinophilia. High suspicion, an aggressive approach in obtaining microbiological diagnosis and timely combination antifungal therapy may give satisfactory outcome without surgery.
Subject(s)
Amphotericin B , Antifungal Agents , Ascomycota , Immunocompetence , Phaeohyphomycosis , Humans , Male , Child, Preschool , Antifungal Agents/therapeutic use , Ascomycota/isolation & purification , Phaeohyphomycosis/microbiology , Phaeohyphomycosis/diagnosis , Phaeohyphomycosis/drug therapy , Amphotericin B/therapeutic use , Voriconazole/therapeutic use , Flucytosine/therapeutic use , Flucytosine/administration & dosageABSTRACT
BACKGROUND: Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature. METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature. Magnetic resonance imaging (MRI) patterns observed in these patients were split into three types-Leigh (putamen, basal ganglia, thalamus, and brainstem involvement), mitochondrial leukodystrophy (ML) (cerebral white matter involvement with cystic cavitations), and mixed (both). RESULTS: Analysis included 44 children (seven from our center and 37 from literature). The most prevalent comorbidities were hypertonia, ocular abnormalities, feeding issues, and hypotonia at onset. Children with the Leigh-type MRI pattern exhibited significantly higher rates of breathing difficulties, whereas those with a mixed phenotype had a higher prevalence of dystonia. The c.1156C>T variant in exon 8 of the NDUFV1 gene was the most common variant among individuals of Asian ethnicity and is predominantly associated with irritability and dystonia. Seizures and Leigh pattern of MRI of the brain was found to be less commonly associated with this variant. Higher rate of mortality was observed in children with Leigh-type pattern on brain MRI and those who did not receive mitochondrial cocktail. CONCLUSIONS: MRI phenotyping might help predict outcome. Appropriate and timely treatment with mitochondrial cocktail may reduce the probability of death and may positively impact the long-term outcomes, regardless of the genetic variant or age of onset.