Evaluation of an interprofessional collaborative practice training module for the management of children with autism spectrum disorder.

Background: Protocols instituted for behavioral treatment and skills training programs for the management of autism spectrum disorder (ASD) suffer from lack of collaborative approaches. The tenets of interprofessional collaborative practice (IPCP) focus on preparing a panel of health care professionals (HCPs) from different professions who can work together to enable the common goal of ensuring that children with ASD can participate in society. This study was designed to pilot this approach through an IPCP training module on ASD for care providers from multiple professions.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

Severe Pulmonary Arterial Hypertension in Healthy Young Infants: Single Center Experience.

Objective: We studied the clinical presentation and management of acute pulmonary arterial hypertension (PAH) in healthy young infants, and the effect of thiamine therapy.

Methods: Review of hospital records was conducted for 56 healthy infants (aged below 6 month) who developed sudden onset of pulmonary arterial hypertension as diagnosed on 2D echocardiography, and were admitted at our institution.

Results: All patients received supportive care and pulmonary vasodilator therapy, whereas those admitted after Sep-tember, 2019 (n=28) received thiamine in addition, as per the institute's protocol.

Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia.

Objective: This study aimed to detect metabolic bone disease and endocrinopathies in a cohort of patients with transfusion-dependent thalassemia (TDT).

Methods: This prospective study was conducted between March 2020 - August 2021. Children with TDT older than 5 years, receiving regular blood transfusion, underwent comprehensive endocrine and metabolic bone disease evaluation, which included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency and hypoparathyroidism.

Drug Induced Diabetes Mellitus in Pediatric Acute Lymphoblastic Leukemia: Approach to Diagnosis and Management.

Corticosteroids and l -asparaginase used in the treatment of pediatric acute lymphoblastic leukemia (ALL) can cause drug-induced diabetes mellitus (DIDM). DIDM can lead to dyselectrolytemia, a higher risk of infections including cellulitis, bacteremia, fungemia, and a higher incidence of febrile neutropenia and may have an impact on the outcome of ALL. Literature on the management of DIDM among children with ALL is sparse and the diagnostic criteria for pediatric diabetes should be carefully applied considering the acute and transient nature of DIDM during ALL therapy.

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous group of disorders characterised by early onset epilepsy, epileptiform activity on electroencephalogram and associated developmental delay or neuroregression. With the advent of high throughput sequencing, novel gene-disease associations have been described for DEEs. Voltage activated sodium channels (Na) regulate neuronal excitability.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over the last 6 years at our centre to identify families with MGVs and MGDs.

Alopecia Areata and Demyelination as Paraneoplastic Manifestation in Paediatric Hodgkin's Lymphoma.

Hodgkin's Lymphoma is one of the commonly encountered lymphomas in childhood. Most of the children present with lymphadenopathy. A rare subset of children do present with constellation of atypical symptoms as paraneoplastic syndromes.

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS.

Super-Refractory Status Epilepticus: A Therapeutic Challenge in Paediatrics.

A status epilepticus which persists for 24 hours or more after starting treatment with anaesthesia or has recurred inspite of general anaesthesia is known as Super-Refractory Status Epilepticus (SRSE). It includes cases where status epilepticus recurs on reduction or withdrawal of anaesthesia. SRSE, though infrequently seen, constitutes a medical emergency due to the associated high morbidity and mortality.

Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect.

Waldmann's disease or Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of gastrointestinal tract characterized by dilated lymphatics and widened villi causing leakage of lymph into intestinal lumen. Loss of lymph leads to hypoalbuminemia, hyogammaglobulinemia and lymphopenia. Secondary lymphangiectasia occurs secondary to an elevated lymphatic pressure as in lymphoma, systemic lupus erythematosus, constrictive pericarditis, cardiac surgeries (Fontan's procedure), inflammatory bowel disease and malignancies.

A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.

Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site of intron 2, and exon 3 skipping was identified by cDNA analysis using cycloheximide.

Guillain-barré syndrome: a clinical study of twenty children.

Background: Guillain-Barre Syndrome (GBS) is an acute monophasic demyelinating neuropathy characterized by progressive motor weakness of limbs with areflexia.

Aim: To study the clinical pattern and outcome of children with Guillain-Barre syndrome.

Materials And Methods: It was a cross-sectional study conducted in a pediatric unit of tertiary care hospital over a period of 18 months.

Clinicohematological study of thrombocytosis in children.

Introduction. Primary thrombocytosis is very rare in children; reactive thrombocytosis is frequently observed in children with infections, anemia, and many other causes. Aims and Objectives.

Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.

A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and delayed motor milestones noticed in early infancy with preserved language and social milestones. Examination revealed generalised hypotonia and hyporeflexia. Baseline haematological and biochemical investigations were normal except for mildly elevated creatine kinase.

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

Purpura fulminans in a child: a case report.

Purpura Fulminans is a life threatening condition characterised by cutaneous haemorrhage and gangrenous necrosis. We present such a case in an eight year old child.

Blue Rubber-Bleb Nevus Syndrome which was Associated with an Atrial Septal Defect: A Case Report.

The Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare cause of persisting gastrointestinal bleeding. We are presenting a case which was associated with an atrial septal defect.

Bilateral type-I duane syndrome with multiple anamolies: a case report.

The Duane syndrome is a strabismus syndrome which is characterized by congenital non-progressive horizontal ophthalmoplegia which primarily affects the abducens nerve. Approximately 70% of the individuals with the Duane syndrome have an isolated disease. We have described here, a case of bilateral Duane syndrome with associated anamolies.

Disseminated strongyloidiasis in a immunocompromised host.

Strongyloidiasis in an immunocompromised patient has the potential to be life threatening. We describe a boy who was on steroids for acute demyelinating myelitis and receiving antibiotics for E. coli UTI and meningitis.