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Byline: Mary. Iype, Omana. Mithran, Anitha. Ayyappan, Mathew. Iype Sir, Congenital muscular dystrophy, structural eye abnormalities, and cobblestone lissencephaly form the triad needed to make a diagnosis of Muscle-Eye-Brain disease [...]

Byline: Jesmy. James, Mary. Iype, Mithran. Surendran, Ayyappan. Anitha, Sanjeev. Thomas Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny [...]

There are a few comprehensive genetic studies on autism spectrum disorders (ASD) in India. Children of multiple births are valuable for genomics studies of complex disorders such as ASD. We report whole-exome sequencing (WES) in a triplet family in which only one among the triplet has ASD. The objective of this study was to identify potential candidate genes for ASD. Exome DNA was enriched using a twist human customized core exome kit, and paired-end sequencing was performed. Proband-specific de novo variants included 150 single nucleotide polymorphisms (SNPs) and 74 indels. Thirteen SNPs were in exonic regions, 7 of them being missense variations. Seventeen variants were previously reported in ASD. Genes harboring variants have functions in the development and maintenance of the central nervous system and are enriched in biological processes involving cell adhesion. This is the first comprehensive genetic study of a monozygotic triplet in ASD. [ABSTRACT FROM AUTHOR]

Byline: Ayyappan. Anitha, Suresh. Poovathinal, Vijitha. Viswambharan, Ismail. Thanseem, Mary. Iype, U. Anoop, P. Sumitha, Rahna. Parakkal, Mahesh. Vasu Background: Rett syndrome (RTT) is a rare neurological disorder that primarily [...]

Byline: Mary. Iype, Mini. Sreedharan, Shahanaz. Ahamed, Elizabeth. Thomas, Merin. Eapen, Sheeja. Sugunan, Geetha. Saradakutty, S. Bindusha Sir, Ataxia and extrapyramidal involvement have been recognized as a characteristic of Dravet [...]

Baller Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We are reporting a new case of BGS in a 10-month-old female child born of an epileptic mother who was on sodium valproate during the initial months of pregnancy. The baby was born with premature closure of the metopic suture, unilateral radial aplasia with limb malformation and other congenital anomalies that conformed with the description of BGS. The parents and other family members were unaffected, karyotyping was normal and there was no history of consanguinity. Fetal valproate exposure has been previously reported as the cause of this fetal malformation syndrome, which is generally inherited as an autosomal recessive trait. The peculiar pregnancy history and the supporting literature on the effects of valproic acid on the fetus exposed in utero to it with numerous case reports in the literature referring to BGS as a result of fetal exposure to valproate made us conclude that this is indeed a case of BGS secondary to valproate-induced teratogenesis.

Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT.Objective: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala.Materials and Methods: In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of MECP2 were amplified and sequenced.Results: MECP2 mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of MECP2, spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the MECP2 gene of 10 patients with a clinical suspicion of RTT.Conclusions: A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of MECP2, followed by exons 1 and 2, testing for large deletions in MECP2, and screening for mutations in genes, such as CDKL5 and FOXG1 that are reported to cause a Rett-like phenotype. [ABSTRACT FROM AUTHOR]

Byline: Mary. Iype, Puthuvathra Abdul. Kunju, Geetha. Saradakutty, Devi. Mohan, Shahanaz. Khan Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal [...]

Byline: Mary. Iype, Prabhakar. Jyothy, P. Sudhakaran, Noel. Narayanan, Kunju. PAM Focal muscular atrophy (FMA) can occur due to several causes. We report three cases of FMA associated with deficiency [...]

Objective: To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six month period. Design: Prospective hospital based study. Setting: The neonatal intensive care unit (NICU) of a tertiary care hospital. Participants: 135 babies were recruited of whom 10 died and 25 were lost to follow up. Methods: The cases were followed up over four months. Result: 68% of the babies followed up were normal; 32% had an abnormal neurological outcome. Seven (7%) developed post-neonatal epilepsy. Hypocalcemia was significantly associated with mortality (OR: 21.9; 95% CI: 1.2-391.2). No risk factors could be identified for post neonatal epilepsy. Presence of spike waves in the EEG was significantly related to abnormal neurological outcome (OR: 3.5; 95% C.I. 1.2-10.8). Conclusions: Majority of neonates with seizures have a normal outcome with no developmental delay or neurological deficit. Predominantly spike waves in the EEG is predictive of abnormal neurological outcome. [ABSTRACT FROM AUTHOR]

Introduction: Specific learning disability (SpLD) refers to a heterogeneous group of disorders manifested by unexpected, specific and persistent difficulties in the acquisition and use of efficient reading (dyslexia), writing (dysgraphia) or mathematical (dyscalculia) abilities despite conventional instruction, intact senses, normal intelligence, proper motivation and adequate socio-cultural opportunity. Methods: A pilot study was done in Trivandrum district in the year 2004. Purposive sampling of nine to eleven year old children studying in two government and two private schools was done. The exclusion criteria included defect in hearing and vision, motor handicap and mental retardation. Results: 40/250 (16%) had dyslexia, dysgraphia, dyscalculia or a combination of these disabilities. The male female ratio was 1.1 : 1 which was insignificant. The commonest learning disability encountered was dyscalculia 19/40 (47.5%) with poor understanding of mathematical notations (47.5%) and mistakes in place value (47.5%) seen as the commonest topological errors. 14/40 (35%), had dysgraphia, with gross spelling errors in 85%, omission, substitution and addition of letters in 68%. 7/40 (17.5%) were dyslexic; 56% of them having dysfluency and 40%, omission, addition, and substitution of letters. 5% had dysgraphia alone, 7.5% had dyscalculia alone and none had pure dyslexia. The whole cohort had a normal neurological examination including fine motor skills and normal conversational language. Discussion: These findings differ from the available literature which has shown dyslexia to top the list of specific learning disorders. Further studies are needed to elucidate the environmental and cultural differences of our population compared to the populations studied in the literature. [ABSTRACT FROM AUTHOR]