Parental awareness, knowledge, and attitude toward conscious sedation in North Indian children population: A questionnaire-based study

The purpose of this study is to find the opinion, attitude, beliefs, and the existing knowledge of parents of Himachal Pradesh suburban city about conscious sedation. Objective: To know the effect of education of parent and prior sedation experience of the child on opinion, attitude, and knowledge of parent about conscious sedation. Methodology: A questionnaire in Hindi/English was provided to parents who accompanied their child for the treatment in the Paedodontics Department of HPGDC College Shimla. Information regarding demography, existing knowledge gained through television, the internet, opinion about the safety of the procedure, knowledge of nothing by mouth guidelines, restraints usage, and knowing their preferences of staying with the child during treatment was explored. Questions were straight yes or no type and multiple choice type. Some questions were statements and wanted the respondents to strongly agree, agree, disagree, or strongly disagree. Results and Conclusion: A total of 350 questionnaires were collected. Parents feel sedation is safe in the dental office as an adjunct to dental treatment. Education played a role in existing knowledge about sedation and perception about the safety of conscious sedation.

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Background & objectives: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the ATRX gene being altered. Most pathological mutations have been localized in two different major domains, the helicase and the plant homeo-domain (PHD)-like domain. In this study we examined a family of three males having an X-linked mental deficiency and developmental delay, and tried to establish a genetic diagnosis while discussing and comparing the phenotype of our patients to those reported in the literature. Methods: Three related males with intellectual deficiency underwent clinical investigations. We performed a karyotype analysis, CGH-array, linkage study, and X-exome sequencing in the index case to identify the genetic origin of this disorder. The X-inactivation study was carried out in the mother and Sanger sequencing was achieved in all family members to confirm the mutation. Results: A novel ATRX gene missense mutation (p.His2247Pro) was identified in a family of two uncles and their nephew manifesting intellectual deficiency and specific facial features without alpha-thalassaemia. The mutation was confirmed by Sanger sequencing. It segregated with the pathological phenotype. The mother and her two daughters were found to be heterozygous. Interpretation & conclusions: The novel mutation c.6740A>C was identified within the ATRX gene helicase domain and confirmed by Sanger sequencing in the three affected males as well as in the mother and her two daughters. This mutation was predicted to be damaging and deleterious. The novel mutation segregated with the phenotype without alpha-thalassaemia and with non-skewed X chromosome.

Prenatal sonographic evaluation and postnatal outcome of renal anomalies.

OBJECTIVE: To determine the prognosis of antenatally detected renal anomalies by sonographic evaluation. MATERIALS AND METHODS: This was a follow-up study of all antenatally detected renal anomalies from January 2008 to Dec 2009 referred to fetal medicine clinic. Prenatal evaluation was done and cases were divided into four groups depending upon their prenatal sonographic findings. Post natal follow-up was done up to one year in cases of live babies. Autopsy was carried out in still born fetus after consent. RESULTS: The renal anomaly was detected in 55 cases, which were fully followed. The prognosis was said to be poor for group I cases with gross extra renal anomaly along with the renal anomaly, and for group II in which there was organic renal pathology with loss of renal function suggested by non-visualization of bladder and almost absent liquor. Prognosis was guarded and depended upon the gestational age of presentation in group III, which had obstructive uropathy; prognosis was good in group IV cases, which were mild, unilateral or which presented late. CONCLUSION: Prenatal sonographic evaluation gives reasonably accurate picture of the prognosis and can be very helpful in counseling the parents regarding prognosis and help in deciding the timing and route of delivery.

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.

Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene.

Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene.

Utility of molecular studies in incontinentia pigmenti patients.

The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.

Spectrum of severe skeletal dysplasias in North India.

OBJECTIVE: Severe skeletal dysplasias are a group of bone growth disorders characterized by a lethal outcome in utero or infancy. We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period. METHODS: We evaluated 15 cases with short limbed dwarfism, of which 13 fetuses were examined after termination of pregnancy and two were evaluated postnatally. RESULTS: Short rib dysplasia syndromes with or without polydactyly, osteogenesis imperfecta type II, thanatophoric dysplasia, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed. CONCLUSION: Precise identification of the tye of skeletal dysplasia is paramount for proper genetic counseling. Postnatal examination and detailed radiographic examination of the fetus especially of the pelvis, limbs, skull and spine are essential to identify the type of skeletal dysplasia.

Spectrum of holoprosencephaly.

OBJECTIVE: To conduct a clinical study of holoprosencephaly (HPE). METHOD: Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available. RESULTS: Six cases were antenatally detected by ultrasound; four cases were stillborn. Three cases were identified by neuroimaging done a part of evaluation of developmental delay or cleft lip. Eleven of them had facial anomalies characteristics of HPE. Two of these had subtle facial features and microcephaly. Karyotype was abnormal in 2 of 7 cases studied. CONCLUSION: Most of the cases of HPE present antenatally or at birth. Milder forms like lobar and semilobar can present as developmental delay during infancy. Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family.

Association of human leucocyte DR and DQ antigens in Crohn's disease in Asian Indians: a family study.

The pathogenesis of Crohn's disease (CD) involves an abnormal immune response to enteric bacteria in genetically susceptible individuals. There are no family studies regarding the association of CD with human leucocyte antigens (HLA) class II. In the present study, we have studied the association of HLA class II antigens in patients with CD and their first-degree relatives. Nine patients with CD and their first-degree relatives were studied. A group of 110 healthy unrelated and ethnically matched subjects were used as controls. Molecular HLA typing was done using the sequence-specific primer-based method. The transmission disequilibrium test (TDT) was used to analyze the results. A total of 65 individuals were included in the study; 52/56 first-degree relatives (92.8%) of 9 patients with CD consented to the study. The median age of patients was 40 years. When the distribution of the HLA class II antigens in patients was compared to that in controls no significant differences were observed even after applying the Yates correction. As the sample size of the population was small, the association of CD with DR and DQ alleles was further analyzed by using the TDT. Even after applying TDT, no significant association was observed. Familial aggregation of CD is uncommon in India. Crohn disease is not associated with HLA class II antigens in Indian patients. Genes of the major histocompatiblity complex are likely to contribute little to the susceptibility to Crohn disease in Indian patients.

Diagnosing acrocallosal syndrome.

A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome.