Alka Anilkumar - Academia.edu (original) (raw)

Papers by Alka Anilkumar

Research paper thumbnail of Speech and Language Challenges in Indian Children with Down Syndrome

The Down syndrome individuals often show speech and language deficits. We have evaluated speech a... more The Down syndrome individuals often show speech and language deficits. We have evaluated speech and language milestones, oromotor and vegetative skills in them. The mean age for cooing and babbling was 6 ± 3.3 and 8 ± 2.95 months. The delay in first word was observed in 73% individuals. In 82% patients expressive language was delayed. Genetic study showed trisomy 21 in 85.7% cases. Our results reinforce delay in acquisition of speech and language milestones which may be due to the structural and functional abnormalities of oral structures and mental retardation. Another reason may be lack of awarness and limited availabilty of facilities. Hence we aim early and proper intervention which can help in improving the speech and language milestones.

Research paper thumbnail of Prevalence of autism spectrum disorders in a semiurban community in south India

Annals of Epidemiology, 2016

Annals of Epidemiology j o u r n a l h o m e p a g e : w w w. a n n a l s o f e p i d e m i o l o... more Annals of Epidemiology j o u r n a l h o m e p a g e : w w w. a n n a l s o f e p i d e m i o l o g y. o r g

Research paper thumbnail of Turner syndrome and its variants

Indian journal of pediatrics, 2010

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients ... more Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

Research paper thumbnail of Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects

Congenital heart disease, Jan 5, 2018

The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clin... more The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clinical diagnosis is difficult. Individuals with this syndrome are found to have a risk of developing transfusion associated graft-versus-host reaction, if they are given nonirradiated blood. Our aim was to elucidate whether chromosome 22q11 deletion in children with syndromic conotruncal heart defects is associated with platelet abnormality. The genetic analysis was performed by standard cytogenetic and Fluorescence in situ hybridization technique. The platelet parameters in 39 patients with chromosome 22q11 deletion were compared with 154 cases without deletion. In deletion versus no deletion group, the mean of mean platelet volume (MPV) was 10.5 ± 2.5 vs 7.6 ± 1.5 fL, platelet count was 225 ± 80.7 and 339 ± 127.3 × 10 /L and frequency of high MPV was 49% vs 7% (P < .0001). The MPV was associated with a sensitivity of 90.9% and a specificity of 79.6% at a cutoff value of 8.32 fL, (area...

Research paper thumbnail of Partial trisomy 9q due to maternal 9q 17q translocation

Indian pediatrics, 2008

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases hav... more Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.

Research paper thumbnail of Screening for TBX1 Gene in Children With or Without Microdeletion of Chromosome 22q11 and Conotruncal Defect

Laboratory Medicine, 2012

Research paper thumbnail of Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

The Indian Journal of Pediatrics, 2013

To describe the spectrum of congenital heart disease in children with Down syndrome and their cyt... more To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile. A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care centre in Kerala with a comprehensive Pediatric Cardiac Program, from November 2005 through April 2012. All children were offered cytogenetic analysis and were subjected to echocardiography. Parental karyotyping was offered for children with translocation type of Down syndrome. The thyroid profiles of all children were checked at the first visit and once every 6 mo during follow up. Congenital heart disease was present in 256 (63.4 %) of 404 children with Down syndrome. Ventricular septal defect (72; 28.1 %) was the commonest, followed by atrio-ventricular septal defect (70; 27.3 %) and patent ductus arteriosus (43; 16.8 %). Surgical correction was accomplished in 104 (40.6 %) with excellent intermediate-term outcomes. Three hundred eighty seven of 418 children (92.6 %) underwent cytogenetic tests. The abnormalities included non-disjunction (340, 87.8 %), translocation (33, 8.5 %) and mosaicism (12, 3.1 %). Hypothyroidism was detected in 57 children (13.6 %). The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.

Research paper thumbnail of Chromosome 22q11 deletion in patients with selected congenital heart disease conotruncal malformations: study of prevalence phenotype genotype and mode of inheritance

Research paper thumbnail of Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children

Acta Paediatrica, 2011

To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian child... more To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian children £2 years with different types of conotruncal malformations and their association with abnormal aortic arch. Additionally, extracardiac features were also studied. Methods: Conventional cytogenetic and fluorescence in situ hybridization analyses were performed in 254 patients with conotruncal defects. Multivariable logistic regression analysis was performed to ascertain extracardiac features helpful in identifying high-risk patients with deletion. Results: Chromosomal abnormalities were identified in 52 (21%) children, of whom 49 (94%) showed 22q11 deletion and 3 (6%) had abnormalities of chromosome 6, 2 and X. None of the 11 ⁄ 254 children with tetralogy of Fallot with absent pulmonary valve showed deletion. The association of 22q11 deletion with right sidedness of the aortic arch varied with the type of conotruncal defect. The eight extracardiac features in combination showed 93.5% agreement with the presence of deletion. Conclusion: The extracardiac features along with specific type of conotruncal defect and associated cardiovascular anomaly should alert the clinician for 22q11 deletion testing. However, if deletion analysis is not possible, specific extracardiac features (six dysmorphic facial features, thin long fingers and hypocalcemia) can help to identify an increased risk of 22q11 deletion in patients with conotruncal defect.

Research paper thumbnail of Speech and Language Challenges in Indian Children with Down Syndrome

The Down syndrome individuals often show speech and language deficits. We have evaluated speech a... more The Down syndrome individuals often show speech and language deficits. We have evaluated speech and language milestones, oromotor and vegetative skills in them. The mean age for cooing and babbling was 6 ± 3.3 and 8 ± 2.95 months. The delay in first word was observed in 73% individuals. In 82% patients expressive language was delayed. Genetic study showed trisomy 21 in 85.7% cases. Our results reinforce delay in acquisition of speech and language milestones which may be due to the structural and functional abnormalities of oral structures and mental retardation. Another reason may be lack of awarness and limited availabilty of facilities. Hence we aim early and proper intervention which can help in improving the speech and language milestones.

Research paper thumbnail of Prevalence of autism spectrum disorders in a semiurban community in south India

Annals of Epidemiology, 2016

Annals of Epidemiology j o u r n a l h o m e p a g e : w w w. a n n a l s o f e p i d e m i o l o... more Annals of Epidemiology j o u r n a l h o m e p a g e : w w w. a n n a l s o f e p i d e m i o l o g y. o r g

Research paper thumbnail of Turner syndrome and its variants

Indian journal of pediatrics, 2010

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients ... more Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

Research paper thumbnail of Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects

Congenital heart disease, Jan 5, 2018

The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clin... more The 22q11 deletion syndrome is associated with a wide spectrum of phenotypic features, hence clinical diagnosis is difficult. Individuals with this syndrome are found to have a risk of developing transfusion associated graft-versus-host reaction, if they are given nonirradiated blood. Our aim was to elucidate whether chromosome 22q11 deletion in children with syndromic conotruncal heart defects is associated with platelet abnormality. The genetic analysis was performed by standard cytogenetic and Fluorescence in situ hybridization technique. The platelet parameters in 39 patients with chromosome 22q11 deletion were compared with 154 cases without deletion. In deletion versus no deletion group, the mean of mean platelet volume (MPV) was 10.5 ± 2.5 vs 7.6 ± 1.5 fL, platelet count was 225 ± 80.7 and 339 ± 127.3 × 10 /L and frequency of high MPV was 49% vs 7% (P < .0001). The MPV was associated with a sensitivity of 90.9% and a specificity of 79.6% at a cutoff value of 8.32 fL, (area...

Research paper thumbnail of Partial trisomy 9q due to maternal 9q 17q translocation

Indian pediatrics, 2008

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases hav... more Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.

Research paper thumbnail of Screening for TBX1 Gene in Children With or Without Microdeletion of Chromosome 22q11 and Conotruncal Defect

Laboratory Medicine, 2012

Research paper thumbnail of Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

The Indian Journal of Pediatrics, 2013

To describe the spectrum of congenital heart disease in children with Down syndrome and their cyt... more To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile. A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care centre in Kerala with a comprehensive Pediatric Cardiac Program, from November 2005 through April 2012. All children were offered cytogenetic analysis and were subjected to echocardiography. Parental karyotyping was offered for children with translocation type of Down syndrome. The thyroid profiles of all children were checked at the first visit and once every 6 mo during follow up. Congenital heart disease was present in 256 (63.4 %) of 404 children with Down syndrome. Ventricular septal defect (72; 28.1 %) was the commonest, followed by atrio-ventricular septal defect (70; 27.3 %) and patent ductus arteriosus (43; 16.8 %). Surgical correction was accomplished in 104 (40.6 %) with excellent intermediate-term outcomes. Three hundred eighty seven of 418 children (92.6 %) underwent cytogenetic tests. The abnormalities included non-disjunction (340, 87.8 %), translocation (33, 8.5 %) and mosaicism (12, 3.1 %). Hypothyroidism was detected in 57 children (13.6 %). The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.

Research paper thumbnail of Chromosome 22q11 deletion in patients with selected congenital heart disease conotruncal malformations: study of prevalence phenotype genotype and mode of inheritance

Research paper thumbnail of Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children

Acta Paediatrica, 2011

To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian child... more To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian children £2 years with different types of conotruncal malformations and their association with abnormal aortic arch. Additionally, extracardiac features were also studied. Methods: Conventional cytogenetic and fluorescence in situ hybridization analyses were performed in 254 patients with conotruncal defects. Multivariable logistic regression analysis was performed to ascertain extracardiac features helpful in identifying high-risk patients with deletion. Results: Chromosomal abnormalities were identified in 52 (21%) children, of whom 49 (94%) showed 22q11 deletion and 3 (6%) had abnormalities of chromosome 6, 2 and X. None of the 11 ⁄ 254 children with tetralogy of Fallot with absent pulmonary valve showed deletion. The association of 22q11 deletion with right sidedness of the aortic arch varied with the type of conotruncal defect. The eight extracardiac features in combination showed 93.5% agreement with the presence of deletion. Conclusion: The extracardiac features along with specific type of conotruncal defect and associated cardiovascular anomaly should alert the clinician for 22q11 deletion testing. However, if deletion analysis is not possible, specific extracardiac features (six dysmorphic facial features, thin long fingers and hypocalcemia) can help to identify an increased risk of 22q11 deletion in patients with conotruncal defect.