Role of female birth attendants to enhance breastfeeding rates and essential newborn care

Background: Women who received support during labor are more likely to give birth “spontaneously.” The role of the female birth attendant (FBA) has not been very well established; hence, this study was planned. Objective: The objective of the study was to train, educate, assess, and evaluate the role of FBA before, during and after labor in terms of mother’s satisfaction, early initiation and continuation of breastfeeding and providing essential newborn care. Methods: In this prospective cohort study, 400 pregnant women, 200 cases and 200 controls in their third trimester were enrolled. FBAs were given training using flipchart. Thesenewborns were followed up at 1½ month at an immunization clinic. Data were collected and analyzed. Results: 88% (176) of cases initiated breastfeeding in the 1st h of birth compared to 14.5% (29) in controls. 57 (28.5%) of controls had given prelacteal feeds to newborns compared to 7% (14) of cases. 108 (59%) of cases put the baby skin-to-skin contact following delivery compared to none in controls. There was more number of hospital visits in neonates of controls 26.25% (52) compared to cases 12.5% (25). Conclusion: The presence of FBAs improves early initiation of breastfeeding, decreases prelacteal feeds, improves skin-to-skin contact indirectly preventing hypothermia, and decreases the number of hospital visits

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Bi-allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported PRDX3 variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent-onset pure and complex cerebellar ataxia

KCNT1- related epilepsy: An international multicenter cohort of 27 pediatric cases

ObjectiveThrough international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1- related epilepsy and explored genotype- phenotype correlations associated with frequently encountered variants.MethodsA cross- sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics.ResultsTwenty- seven children (15 males, mean age = 40.8 months) were included. Seizure onset ranged from 1 day to 6 months, and half (48.1%) exhibited developmental plateauing upon onset. Two- thirds had epilepsy of infancy with migrating focal seizures (EIMFS), and focal tonic seizures were common (48.1%). The most frequent recurrent KCNT1 variants were c.2800G>A; p.Ala934Thr (n = 5) and c.862G>A; p.Gly288Ser (n = 4). De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray- white matter interface indistinctness, suggesting a malformation of cortical development. Several antiepileptic drugs (mean = 7.4/patient) were tried, with no consistent response to any one agent. Eleven tried quinidine; 45% had marked (>50% seizure reduction) or some improvement (25%- 50% seizure reduction). Seven used cannabidiol; 71% experienced marked or some improvement. Fourteen tried diet therapies; 57% had marked or some improvement. When comparing the recurrent variants to the rest of the cohort with respect to developmental trajectory, presence of EIMFS, >500 seizures/mo, abnormal MRI, and treatment response, there were no statistically significant differences. Four patients died (15%), none of sudden unexpected death in epilepsy.SignificanceOur cohort reinforces common aspects of this highly pleiotropic entity. EIMFS manifesting with refractory tonic seizures was the most common. Cannabidiol, diet therapy, and quinidine seem to offer the best chances of seizure reduction, although evidence- based practice is still unavailable.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154940/1/epi16480_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154940/2/epi16480.pd

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

PURPOSE: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype, but with limited neuroradiological data and insufficient evidence for causality of the variants. METHODS: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals. The pathogenicity of TARS2 variants was evaluated using in vitro assays, and a zebrafish model. RESULTS: We report 18 new individuals harboring biallelic TARS2 variants. Phenotypically, these individuals show developmental delay/intellectual disability, regression, cerebellar and cerebral atrophy, basal ganglia signal alterations, hypotonia, cerebellar signs and increased blood lactate. In vitro studies showed that variants within the TARS2301-381 region had decreased binding to Rag GTPases, likely impairing mTORC1 activity. The zebrafish model recapitulated key features of the human phenotype and unraveled dysregulation of downstream targets of mTORC1 signaling. Functional testing of the variants confirmed the pathogenicity in a zebrafish model. CONCLUSION: We define the clinico-radiological spectrum of TARS2-related mitochondrial disease, unveil the likely involvement of the mTORC1 signaling pathway as a distinct molecular mechanism, and establish a TARS2 zebrafish model as an important tool to study variant pathogenicity

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harbouring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: (i) defective cell membrane expression; (ii) impaired LGI1-binding; and/or (iii) impaired interaction with the postsynaptic density protein PSD-95. We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics. Van der Knoop et al. describe the clinical features of 21 individuals with biallelic pathogenic variants in ADAM22 and confirm the deleteriousness of the variants with functional studies. Clinical hallmarks of this rare disorder comprise progressive encephalopathy and infantile-onset refractory epilepsy.Peer reviewe

Clinical Profile and Outcome in Children with Post Diphtheritic Paralysis in a Tertiary Care Hospital in South India

Abstract Objectives Post-Diphtheritic Paralysis (PDP), one of the most severe complications of Diphtheria, is caused by exotoxin of Corynebacterium diphtheria. Since there has been a resurgence of diphtheria in India in the recent years attributed to a number of epidemiological factors, this study was planned. Materials & Methods Thirty-five children with Post-Diphtheritic paralysis (PDP) were studied in a tertiary care hospital in Southern India. Neurological complications occurred in 38.5% of 91 patients of faucial diphtheria. Thirteen (37.1%) children were unimmunized, 12 (34.3%) were partially immunized, two (5.7%) were completely immunized and unknown status in eight (22.6%). Isolated bulbar palsy in 20 (57.1%) and bulbar palsy followed by limb weakness was seen in 15(42.9%) of patients. The first symptoms of PDP occurred 5-34 days after the onset of local diphtheria infection. Eleven (31.4%) out of 35 patients had received anti-toxin between days 5-7 of illness. Ventilation dependent respiratory failure occurred in three (8.6%) patients with PDP. Nine patients (25.7%) 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%.  Bulbar palsy recovered by 4-7weeks, while limb symptoms improved by 6-17weeks. Conclusion Post-Diphtheritic paralysis 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 is important to reduce PDP, as antitoxin seems ineffective if administered after the second day of diphtheritic symptoms

Chromoblastomycosis associated with bone and central nervous involvement system in an immunocompetent child caused by exophiala spinifera

Chromoblastomycosis is a chronic granulomatous infection of the skin and subcutaneous tissue caused by specific group of dematiaceous fungi. The infection results from traumatic injury and is seen more commonly on feet and lower legs. It is rarely seen in children and metastatic spread to other systems is exceptionally rare. We report a 12-year-old immunocompetent male child diagnosed with chromoblastomycosis on the lower leg, who in a span of few months developed osteomyelitis and left hemiparesis. Fungal culture showed growth of Exophiala spinifera. Child showed good improvement with voriconazole and itraconazole after 1 year of treatment. Skin lesions healed with minimal scarring and his power improved

Caregiver-reported health-related quality of life of children with cerebral palsy and their families and its association with gross motor function: A South Indian study

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