Gideon Vardi

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate : chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders.

Clinical Holistic Medicine: Holistic Treatment of Children

We believe a holistic approach to problems in childhood and adolescence will benefit the child, adolescent, and the whole family. As a rule, children have far less to say in the family than their parents. Therefore, it is the parents who set the agenda and decide how things are done at home and in relation to the child. Most often, it is also the parents who have a problem when the child is not thriving. The child thus acts as the thermometer of the family. When children are not feeling well or are sick, the parents are not doing well either. Most problems arising from dysfunctional patterns are almost impossible for the parents to solve on their own, but with help and support from the holistically oriented physician, we believe that many problems can be discovered and solved. Not only can health problems be addressed, but also problems of poor thriving in the family in general. With the physician in the role of a coach, the family can be provided with relevant exercises that will change the patterns of dysfunction. Consciousness-based medicine also seems to be efficient with children and adolescents, who are much more sensitive to the psychosocial dimensions than adults. Five needs seem to be essential for the thriving and health of the child: attention, respect, love, acceptance (touch), and acknowledgment. The physician should be able to see if the child lacks fulfillment in one or more of these needs, and he can then demonstrate to the parents how these needs should be handled. This should be followed by simple instructions and exercises for the parents in the spirit of coaching. This approach is especially relevant when the child is chronically ill.

Adolescents with Down syndrome.

Adolescence is a period of transition that can create stress for both adolescents and parents. Adolescents with Down syndrome (DS) go through the same stages as other adolescents, but due to lack of cognitive and behavioral factors they and their parents may find this period particularly challenging. This paper reviews several studies, especially from the United Kingdom, of groups of adolescents with Down syndrome and their controls followed from childhood, through adolescence into adulthood. There are special medical problems for this population that require annual medical examinations and surveillance, but the focus has shifted from health problems to social maturation, developing independence, and transition from school to employment or work activity. Medical transition from a pediatric to family physician provider is mentioned with recommendations as to how that transition can be made as smooth as possible.

The Arab Community in Israel Coping with Intellectual and Developmental Disability

The Arab family in Israel is still embedded in the traditional society with extended family support systems, but we see a population in transition influenced by the surrounding society. This paper looks at the different religious attitudes toward the exceptional people in our society (i.e., the family reaction to a child born with intellectual or developmental disability), reviews recent studies on the Arab and Bedouin families in Israel, and presents data on the Arab population in residential care centers.Today, out of 57 residential care centers in Israel for persons with intellectual disability, 13 (22.8%) are providing service to the non-Jewish population. The Arab population constitutes 12–13% of the total residential care population, lower than the 19–20% in the total population. In residential care, the Arab population is characterized by younger children with severe and profound intellectual disability. The informal family support system is still a very important factor in the Arab family in Israel, a fact that we believe should be strengthened by implementing the British and Danish model of nurse home visitation.

Trends in adolescent violence.

Adolescent or youth violence is a very visible violence in modern society and in 1996 the World Health Assembly declared violence a leading public health issue. In order to understand the scope of the problem, we looked at the epidemiology of global adolescent violence. In 2000 it was estimated that 199,000 adolescent homicides (9.2 per 100,000) occurred globally or about 565 adolescents died each day due to interpersonal violence with variations around the globe. One type of prevention program that has proven effective is prenatal and early childhood home visitation with long-term follow-up that has shown to be cost effective.

Intellectual disability and parenthood.

Parenthood in persons with intellectual disability (ID) is an issue of concern for the family, guardians, and professionals as there are many sentiments and problems involved: financial, technical, medical, legal, and above all moral. People with intellectual, developmental, or other disabilities have feelings, want relationships, and are able to have children also. The attitude of society has changed through time from the early eugenic concern with heredity and fertility, to a focus on the risk to the children due to parental neglect or abuse, to acceptance and a search for solutions to parental training and support. This change can be seen as a result of a shift from institutional care to community care and normalization. This paper reviews available research, prevalence, service issues, experience from around the world, and relates to the situation in Israel. Jewish Law has been very progressive regarding the possibility of marriage between persons with ID (in contrast to American Law where historically this right has been denied, until recently). Recent research has shown that, in the case of such a union resulting in children, although they require some supervision, family, friends, and social welfare agencies have scrutinized these families so much they are in constant fear of their child being taken away. There is little information on the number of such cases and an overall dearth of information on the effects on the children, although one recent study from the U.K. has shown a varied picture of resilience and a close, warm relationship later on with the family and especially the mother.

Trends in adolescent injury mortality in Israel

Epidemiology is an important and powerful tool in public health used to monitor health, observe trends and identify risk factors for utilization in strategy, policy and planning of services and interventions. Unintentional injury is the leading cause of death in adolescents worldwide with motor vehicle injury and drowning the leading causes. In Israel the mortality rate for motor vehicle mortality rate for adolescents was found to be 10.6 per 100,000 and 1.0 per 100,000 for drowning. Studies have shown a decrease in injury and mortality over time, but there is still much to do and calculation studies have shown that it is possible to prevent further with targeted serious effort and strategies employed.

Barriers to home care and social support for an adolescent with disability.

Home care for children with disability has expanded in the last twenty years in order to support the child and family at home and avoid hospitalization or long term care facilities. A case story is presented to show several barriers to home care for a 15 year old boy with Hunters syndrome and severe disability. The case showed a need for further education and coordination of professionals in order for pediatric home care to be more efficient and supportive in Israel.