ABSTRACT
The 2011 French Bioethics Law regarding disclosure of genetic information within families enables health professionals to notify any at-risk relatives directly, with the patient's consent, using a template letter. To assess the impact of this template letter in terms of understanding, personal feelings and intent to contact a health professional, we conducted a study interviewing patients, members of the public and genetic professionals. Although the main response to the letter was anxiety, this was associated with good understanding of the content and most individuals mentioned intention to contact a health professional.
ABSTRACT
Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in CREBBP gene) and 39 children (mean age = 8.6 years) matched on developmental level, age and gender were administered the Child Behavior Checklist and the Children's Social Behavior Questionnaire. Children with RTS did not exhibit higher internalizing (affective and anxiety symptoms) or externalizing (disruptive symptoms) behavioral problems than expected for their age/developmental range. However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning.
Subject(s)
Autistic Disorder/diagnosis , Autistic Disorder/genetics , CREB-Binding Protein/genetics , Child Behavior Disorders/diagnosis , Child Behavior Disorders/genetics , Psychomotor Disorders/diagnosis , Psychomotor Disorders/genetics , Rubinstein-Taybi Syndrome/diagnosis , Rubinstein-Taybi Syndrome/genetics , Social Behavior , Adolescent , Autistic Disorder/psychology , Child , Child Behavior Disorders/psychology , DNA Mutational Analysis , Female , Humans , Male , Overweight/diagnosis , Overweight/genetics , Overweight/psychology , Personality Assessment/statistics & numerical data , Phenotype , Psychometrics , Psychomotor Disorders/psychology , Rubinstein-Taybi Syndrome/psychology , Stereotyped BehaviorABSTRACT
Announcing a diagnostic of genetic disease to a child is for parents such a pain, also brutal and destructive. Even if the physician chooses the best moment, the right words, it's a sign of a rupture, a real disaster combined with physical feeling of bascule and temporo-spacial confusion. It's a beach in their flesh, a lost of identity, a profound norcissic failure. In addition this feature is associated with a high feeling of guilt failure with sometimes non logical imaginary structures. All those testimonies confirm that the identification of a genetic disease is a key in the family history. Announcing a diagnostic almost stay in mind as a bad new enduring a period of life when disease was absent or undiagnosed. Even if previews complementary investigations were done, the revelation still stays a mess. Also the diagnosis could be a relief the beginning of a new life with possibility of rebuilding. Regarding genetic diseases, it's the whole family that is concerned. The patients will deal with the diseases daily sometimes invisible by the circle. After the announcement of the diagnosis, the parents will have to structure that life according to the changes that the diseases rags in the family Brothers and sisters will have to find their place compared to this affetted brother or sister. In the some time as finding answers too many questions. The grand parents may feel guilty and wonder how to help the parents. The main part to this psychological approach in genetic diseases is to give each member of the family his role.
