Type 1 diabetes in a Nigerian family-occurrence in three out of four siblings: A case report

BACKG ROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial. Hence, type 1 diabetes among siblings is a rare occurrence. Even more rare is for three or more siblings to develop type 1 diabetes. In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes. All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female) born to a couple without a diagnosis of diabetes. The eldest child(male) was diagnosed with diabetes at the age of 15, the second child(female) was diagnosed at the age of 11 and the fourth child(male) was diagnosed at the age of 9. All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis. All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies. We could not perform genetic analysis of HLA-DR, DQ and CTLA4 in the siblings as well as the parents; hence haplotypes could not be characterized. Both parents of the probands have no prior history of diabetes, and their blood glucose and glycated hemoglobin levels were within normal ranges. The third child(male) has no history suggestive of diabetes, and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.     

The siblings relationship of adolescents with and without intellectual disabilities

The sibling relationship of adolescents with and without intellectual disabilities was examined. Participants were 70 sibling dyads - each dyad was comprised of one 12-year old adolescent with (N = 23) or without intellectual disabilities (N = 47). Sibling relationships, behavior problems, and social skills were assessed using mother reports. Results revealed three findings. First, for typically developing adolescents, mothers reported more warmth in the sibling relationship for opposite sex dyads. For adolescents with intellectual disabilities, mothers reported more warmth in the sibling relationship for same-sex dyads. Second, for typically developing adolescents, mothers reported more status/power differences when the sibling was younger than when the sibling was older. For adolescents with intellectual disabilities, birth order did not affect status/power in the sibling relationship. Third, for typically developing adolescents, conflict was related to internalizing behavior problems. For adolescents with intellectual disabilities, conflict was related to externalizing behavior problems. Implications, limitations, and future directions are discussed.     

Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging

Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. It is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Imaging modalities are crucial scanning methods. Cryptophthalmos, cyclopia, synophthalmia and congenital cystic eye should be considered in differential diagnoses. We report two clinical anophthalmic siblings, emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia.     

Association between number of siblings and cause-specific mortality in the Glasgow alumni cohort study

In the Glasgow University Alumni cohort, students with no siblings experienced higher respiratory disease mortality. This risk diminished after accounting for potential confounders. We did not find strong evidence of an association with all cause, coronary heart disease, stroke or stomach cancer mortality. Number of siblings is a proxy for other exposures and exploring its association with specific disease outcomes can help disentangle some of the pathways relating early life exposures to adult mortality.     

From children to young adults: cystic fibrosis and siblingship: a longitudinal study

Aim: To compare the results from our previous study in 1994/95 of children with cystic fibrosis (CF) at the age of 6–14 years and their healthy siblings with data from the same participants as young adults in regard to their self‐esteem, life satisfaction and attitudes towards the CF siblingship situation. Methods: Thirty‐seven sibling pairs participated. Three instruments were used: The ‘As I see myself’ self‐evaluation questionnaire; the ‘Ladder of life’, assessing life satisfaction; and the ‘Sibling Mirror’, reflecting a person’s feelings, when one’s sibling or oneself has CF. Results: Contrary to 1994/95 study results, the female participants showed no signs of impaired self‐esteem. Concerning life satisfaction, women in both groups and the men with CF have lower ratings than a healthy reference group. Individuals with CF look upon themselves today as independent, thoughtful and mature, but remember themselves as being active, spoiled or fussy. Healthy siblings consider themselves diplomatic, responsible, mature, important and loyal but remember themselves as angry, envious and neglected. Conclusion: The self‐esteem of women in the sibling pairs (whether with CF or healthy sisters) has improved since their childhood. Overall, the results indicate that young adults with CF today are medically well controlled and psychosocially well adapted, albeit aware of their precarious future.     

Reviews

Abstract

DISEASE, PAIN AND SUICIDAL BEHAVIOR. Elsbeth Stenager and Egon Stenager. New York: The Haworth Medical Press, 1998, 121 pages, $9.00. Paperback. Reviewed by Nancy Deeds Meister.

HEAR HOW I FEEL. A video produced by the Baton Broadcasting System and Mid Canada Television (24 minutes, 30 seconds), 1996. No charge at present. Reviewed by Linda McLellan.     

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings

Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present.     

Early Social,Imitation, Play,and Language Abilities of Young Non-Autistic Siblings of Children with Autism

Studies are needed to better understand the broad autism phenotype in young siblings of children with autism. Cognitive, adaptive, social, imitation, play, and language abilities were examined in 42 non-autistic siblings and 20 toddlers with no family history of autism, ages 18–27 months. Siblings, as a group, were below average in expressive language and composite IQ, had lower mean receptive language, adaptive behavior, and social communication skills, and used fewer words, distal gestures, and responsive social smiles than comparison children. Additionally, parents reported social impairments in siblings by 13 months of age. These results suggest that the development of young non-autistic siblings is affected at an early age and, thus, should be closely monitored, with appropriate interventions implemented as needed.     

Longitudinal Relationships Between Sibling Behavioral Adjustment and Behavior Problems of Children with Developmental Disabilities

Siblings of children with developmental disabilities were assessed twice, 2 years apart (N = 75 at Time 1, N = 56 at Time 2). Behavioral adjustment of the siblings and their brother or sister with developmental disability was assessed. Comparisons of adjustment for siblings of children with autism, Down syndrome, and mixed etiology mental retardation failed to identify group differences. Regression analysis showed that the behavior problems of the child with developmental disability at Time 1, but not the change in their behavior over time, predicted sibling adjustment over 2 years. There was no evidence that this putative temporal relationship operated bidirectionally: sibling adjustment did not appear to be related to the behavior problems of the children with developmental disabilities over time.