Psychological risks of genetically testing children for a hereditary cancer syndrome.

Parents in families with a hereditary cancer syndrome are often familiar with periodical clinical testing of both themselves and their children. Genetic testing is an additional early diagnostic option that is becoming available for an increasing number of hereditary cancer syndromes. Participants in genetic counseling programs for cancer syndromes are often parents who apply for their children. If a child is identified as a carrier of a specific disease-causing gene mutation, sometimes its parents must decide on when it will be treated can treatment be postponed until expression of the disease or should the child receive presymptomatic surgery? We discuss some of the possible risks of genetically testing children: distress as a result of ambivalent feelings towards testing, preoccupation with disease-related signs, changes in family interactions, the burdening prospect of a future disease and medicalization of the carrier-child.

Psychosocial consequences of DNA analysis for MEN type 2.

Multiple endocrine neoplasia type 2 (MEN-2) is characterized by medullary thyroid carcinoma in combination with pheochromocytomas and, sometimes, parathyroid adenomas. Since 1993, the psychosocial implications of DNA analysis for MEN-2 have been studied in the Netherlands. This article summarizes the first results of that study. Individuals who applied for DNA analysis cited the need to reduce uncertainty as the major reason for wanting the test. An unfavorable test outcome resulted in anxiety and depression but also relief. Immediate preventive treatment was preferred to continued periodic screening. Carriers were preoccupied with disease-related complaints, and identified with other carriers and MEN-2 patients. A favorable test led, in most applicants and partners, to both relief and worry. Some noncarriers felt guilty and isolated from their families. One year after counseling, participants reported fewer psychosomatic complaints.

Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.

A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient with partial trisomy 9p who has been regularly examined from birth until age 10 years.

[Support following pregnancy termination for genetic indications: experiences of involved women and their partners]. / Opvang na zwangerschapsbeëindiging op genetische indicatie: ervaringen van de betrokken vrouwen en hun partners.

By means of semistructured interviews with 40 women and their partners data were collected concerning on the one hand the care and support and on the other the grieving after termination of pregnancy performed because the child appeared to be genetically affected. Crucial in the grieving process is having to choose personally for or against termination of the pregnancy. This grieving process can be complicated by factors such as uncertainty concerning either the evidence of the disease or its prognosis, high recurrence risk, negative self-esteem, feelings of failure and pre-existent relational or personal problems. Clear and complete counselling, combined with structural support during the hospital stay, proves to be the basis of adequate care. Follow-up interviews after the hospital stay play a supporting part, both for the hospital workers and for the couple involved.

Rubinstein-Taybi syndrome in The Netherlands.

This study reports the physical and radiographic characteristics of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthesia.

Rubinstein-Taybi syndrome in a mother and son.

The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An affected offspring has occurred at least twice, possibly six times. In 45 yet undescribed Dutch cases no recurrence was found in 94 sibs. A submicroscopic chromosome deletion seems the most probable explanation, but other alternatives may be possible.