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1.
Eur J Hum Genet ; 23(12): 1729-34, 2015 Dec.
Article in English | MEDLINE | ID: mdl-25388005

ABSTRACT

A consanguineous Bedouin Israeli kindred presented with a novel autosomal recessive intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. Brain imaging demonstrated various degrees of agenesis of corpus callosum and hypoplasia of the vermis and cerebellum. Genome-wide linkage analysis followed by fine mapping defined a 7.67 Mb disease-associated locus (LOD score 4.99 at θ=0 for marker D10S1653). Sequencing of the 48 genes within the locus identified a single non-synonymous homozygous duplication frameshift mutation of 13 nucleotides (c.2134_2146dup13) within the coding region of FRMD4A, that was common to all affected individuals and not found in 180 non-related Bedouin controls. Three of 50 remotely related healthy controls of the same tribe were heterozygous for the mutation. FRMD4A, member of the FERM superfamily, is involved in cell structure, transport and signaling. It regulates cell polarity by playing an important role in the activation of ARF6, mediating the interaction between Par3 and the ARF6 guanine nucleotide exchange factor. ARF6 is known to modulate cell polarity in neurons, and regulates dendritic branching in hippocampal neurons and neurite outgrowth. The FRMD4 domain that is essential for determining cell polarity through interaction with Par3 is truncated by the c.2134_2146dup13 mutation. FRMD4A polymorphisms were recently suggested to be a risk factor for Alzheimer's disease. We now show a homozygous frameshift mutation of the same gene in a severe neurologic syndrome with unique dysmorphism.


Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Frameshift Mutation , Intellectual Disability/genetics , Microcephaly/genetics , Adult , Amino Acid Sequence , Base Sequence , Child , Female , Gene Duplication , Homozygote , Humans , Intellectual Disability/diagnosis , Male , Microcephaly/diagnosis , Molecular Sequence Data , Syndrome
2.
J Dev Behav Pediatr ; 29(1): 18-25, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18300724

ABSTRACT

OBJECTIVES: There is a paucity of empirical studies of trust among parents of children with developmental disabilities. Trust is an important element in the patient-physician relationship, especially in medical rehabilitation, where continuous cooperation is essential for positive therapeutic outcomes. Trust is dependent on a variety of psychosocial factors, one of which is the physician's communication style. The current study had three goals: (1) to compare two groups of Israeli parents, Jews and Bedouins, in terms of the levels of global trust in the pediatricians in a regional child development center; (2) to compare their perceptions of the pediatricians' communication styles; and (3) to assess the association between three communication styles (caring, interest, and collaboration) and the parents' trust in the pediatricians. METHODS: The sample included 193 parents of disabled children ranging from 6 months to 6 years of age. Global trust and parents' perceptions concerning their communication with the center's pediatricians were measured by scales developed for this research. RESULTS: Despite the large cultural differences that exist between the Jewish and Bedouin groups, the only significant difference between them was that Jewish parents' reported a significantly higher level of collaboration compared with the Bedouins. Global trust in the pediatrician was significantly predicted by the interest and collaboration communication styles, but ethnicity was not a significant predictor. CONCLUSION: These findings underscore the importance of physicians' interpersonal competence and skills in the therapeutic relationship and support the increasing trend of including doctor-patient communication training in undergraduate and continuing medical education.


Subject(s)
Arabs , Communication , Disabled Children , Jews , Parents , Pediatrics , Physician-Patient Relations , Trust , Adult , Child , Culture , Female , Humans , Male , Pilot Projects , Professional-Family Relations , Psychology , Surveys and Questionnaires
3.
Pediatr Neurol ; 35(5): 335-42, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17074604

ABSTRACT

The aim of this study was to correlate amplitude-integrated electroencephalography soon after birth with neurodevelopmental outcome in children who suffered from hypoxic-ischemic encephalopathy. Near term infants with hypoxic-ischemic encephalopathy and amplitude-integrated electroencephalography recording before 6 hours of age were included. Neurologic and cognitive outcome were assessed at 30 months of age and over. Outcome was correlated with either the pattern or voltage of the tracing. Thirty-nine infants were included. Eight died in the immediate neonatal period. At the age of 3 and 6 hours, sensitivity of low voltage to poor outcome was 33% and 42% respectively and of burst suppression pattern to poor outcome was 83% and 75% respectively. Association of voltage to outcome was significant only at 6 hours of age (P = 0.025). Association of pattern to outcome was significant both at 3 and 6 hours of age (P = 0.003, 0.008). These data on amplitude-integrated electroencephalography predictive value early in life were similar to previous studies. Burst suppression pattern, as early as 3 hours of age, is associated with poor outcome. At the age of 6 hours, both low voltage and burst suppression are associated with poor outcome. Pattern seems more sensitive than voltage.


Subject(s)
Asphyxia Neonatorum/complications , Brain/physiopathology , Child Development/physiology , Electroencephalography , Hypoxia-Ischemia, Brain/physiopathology , Hypoxia-Ischemia, Brain/psychology , Asphyxia Neonatorum/physiopathology , Child, Preschool , Cohort Studies , Female , Humans , Hypoxia-Ischemia, Brain/etiology , Infant , Infant, Newborn , Male , Neurologic Examination , Predictive Value of Tests
4.
Am J Hum Genet ; 79(5): 942-8, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17033970

ABSTRACT

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.


Subject(s)
Mutation , Neuroaxonal Dystrophies/enzymology , Neuroaxonal Dystrophies/genetics , Phospholipases A/genetics , Amino Acid Sequence , Brain/pathology , Child , Child, Preschool , Chromosome Mapping , Chromosomes, Human, Pair 22/genetics , Consanguinity , Female , Genes, Recessive , Haplotypes , Humans , Infant , Israel , Lod Score , Magnetic Resonance Imaging , Male , Molecular Sequence Data , Neuroaxonal Dystrophies/pathology , Pedigree , Phenotype , Phospholipases A2 , Sequence Deletion , Sequence Homology, Amino Acid
5.
Health Commun ; 19(3): 221-9, 2006.
Article in English | MEDLINE | ID: mdl-16719725

ABSTRACT

This study evaluates the level of general satisfaction with the services of a child development center in 2 groups of Israeli parents, Jews and Bedouins. It also assesses which 3 dimensions of therapist-parent communication significantly explain general satisfaction with the center's services. A total of 193 parents of children ranging from 6 months to 6 years of age participated in the study (84% response rate). Parents' attitudes regarding their communication with the center's therapists were evaluated by 15 items that were clustered into 3 dimensions of communication: caring, collaboration, and interest. General satisfaction with the center's services was high in both groups. Relatively high average scores were also given to the studied dimensions of communication. Jews were more satisfied with the center's services than were Bedouins and ranked caring and collaboration significantly higher than did Bedouins. Caring and collaboration best explained the variability in general satisfaction in a multivariate analysis. Being a Jew or a Bedouin parent was not found to be a significant explanatory variable of general satisfaction with the center's services. Therapists' expressions of care and collaboration with parents seem to be key factors in explaining parents' general satisfaction with rehabilitation services in the 2 different cultural groups. These factors should therefore be nurtured in order to ensure parents' satisfaction and participation in the ongoing and demanding process of child rehabilitation. The question of whether this finding is applicable to other populations has to be further studied.


Subject(s)
Arabs , Child Health Services , Jews , Parents/psychology , Professional-Family Relations , Child , Child, Preschool , Communication , Consumer Behavior , Cooperative Behavior , Empathy , Female , Humans , Infant , Israel , Male , Socioeconomic Factors
6.
Res Dev Disabil ; 27(3): 233-42, 2006.
Article in English | MEDLINE | ID: mdl-15998579

ABSTRACT

The purpose of this study was to assess the level of parental satisfaction with services of a child development center and to evaluate the physician-parent dimensions of communication. A total of 90 parents to children with disability ranging in age from 6 months to 6 years participated in the study (84% response rate). Attitudes regarding parental communication with physicians were evaluated by 15 items clustered into three factors, which expressed different dimensions of communication: caring, collaboration and interest. Parents ranked their general satisfaction with the center's services relatively high as well as their evaluations of physician behavior of caring, collaboration and interest. Positive and statistically significant correlations were found between the studied communication dimensions and general satisfaction. However, collaboration was the only dimension that explained the variability on general satisfaction in a multivariate analysis. The collaboration of the physician with the parents was a key factor to explain parental general satisfaction with child rehabilitative services. Collaboration, which is associated with processes such as mutual decision making and sharing of responsibility, should be nurtured, in order to increase parents' general satisfaction with the services given.


Subject(s)
Child Health Services , Developmental Disabilities/therapy , Professional-Family Relations , Adult , Child , Communication , Consumer Behavior , Developmental Disabilities/psychology , Humans , Parents/psychology , Surveys and Questionnaires
7.
Pediatr Phys Ther ; 17(3): 173-9, 2005.
Article in English | MEDLINE | ID: mdl-16357671

ABSTRACT

PURPOSE: This study was designed to examine the level of global trust in therapists for two groups of Israeli parents, Jews and Bedouin, and to assess which of three interpersonal communication styles significantly explain global trust in the therapists. METHODS: A total of 193 parents of children ranging from six months to six years of age participated in this study. Parents' perceptions regarding their communication with the center's therapists were measured by 15 items clustered into three dimensions of communication: caring, collaboration, and interest. RESULTS: Parents of both cultural groups expressed high levels of global trust in the center's therapists. Jewish parents trusted their children's therapists significantly more than their Bedouin counterparts and ranked the therapists' caring and collaboration more highly. The communication style of caring was found to be the sole contributor to the variability in global trust. CONCLUSIONS: Effort should be undertaken to develop effective communication styles for the dimension of caring to increase therapists' ability to promote global trust in their patients' parents.


Subject(s)
Arabs/psychology , Attitude to Health/ethnology , Communication Barriers , Cultural Diversity , Jews/psychology , Parents/psychology , Physical Therapy Specialty , Professional-Family Relations , Trust , Adult , Arabs/ethnology , Child , Empathy , Female , Health Care Surveys , Humans , Israel , Jews/ethnology , Male , Parents/education , Pilot Projects , Qualitative Research , Surveys and Questionnaires
8.
Med Sci Monit ; 11(3): CR117-22, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15735563

ABSTRACT

BACKGROUND: The aim of this study was to examine all cases of infantile spasms (IS) diagnosed at the Soroka University Medical Center, Ben Gurion University, Israel during 1981--1997. MATERIAL/METHODS: 31 children, 17 (55%) males. 17 (55%) were Jews and 14 (45%) Bedouins. Four (13%) died. Data was gathered from hospital files, neuropediatric unit and Zusman Child Development Center. Demographic and ethnic data, characteristics of the disease type of seizures, EEG pattern imaging studies, type of treatment, psychomotor development, rehabilitation and educational services were analysed. RESULTS: Mean age at diagnosis 7.22 months. Etiology for one third was pre- or perinatal insult, one third postnatal and one third unknown. 26 (84%) were symptomatic and five (16%) cryptogenic. Significant statistical difference was found with more Bedouin children symptomatic with moderate or severe mental retardation, cerebral palsy with severe motor difficulties and recurrence of the disease. Statistically significant correlation existed between poor response to initial treatment and placement in special education, recurrence of disease and cerebral palsy with moderate or severe motor difficulties, the appearence of a different type of epilepsy during follow-up and placement in special education. 18 children (58%) received first treatment with ACTH, 10 (32%) children with IVIG (immunoglobolin iv), 3 (10%) with neither ACTH nor IVIG. Regarding therapy response we found no significant difference between Jews and Bedouins. CONCLUSIONS: No significant statistical difference was found between the two treatments concerning clinical course or developmental follow-up. Due to small numbers multi-center research is needed.


Subject(s)
Arabs/statistics & numerical data , Ethnicity/statistics & numerical data , Jews/statistics & numerical data , Spasms, Infantile/diagnosis , Adrenocorticotropic Hormone/therapeutic use , Anticonvulsants/therapeutic use , Child Development/drug effects , Female , Follow-Up Studies , Humans , Incidence , Infant , Israel/epidemiology , Male , Retrospective Studies , Spasms, Infantile/drug therapy , Spasms, Infantile/epidemiology , Spasms, Infantile/etiology , Time Factors
9.
Am J Med Genet A ; 132A(1): 33-5, 2005 Jan 01.
Article in English | MEDLINE | ID: mdl-15558753

ABSTRACT

Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity.


Subject(s)
Abnormalities, Multiple/genetics , Collagen Type XI/genetics , Dwarfism/pathology , Genes, Recessive/genetics , Mutation , Abnormalities, Multiple/pathology , Bone Diseases, Developmental/pathology , Chromosomes, Human, Pair 6/genetics , Consanguinity , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Female , Genetic Linkage , Haplotypes , Hearing Loss, Sensorineural/pathology , Humans , Male , Microsatellite Repeats , Osteochondrodysplasias/pathology , Pedigree , Syndrome
10.
ScientificWorldJournal ; 4: 186-92, 2004 Mar 15.
Article in English | MEDLINE | ID: mdl-15105958

ABSTRACT

Some communities have peripheral zones inhabited by persons with a different culture than the majority of the general population, such as the Aboriginals in Australia, the Native Americans in the U.S. and Canada, the Eskimos in Lapland, and the Bedouins in Israel. These citizens are not receiving the same medical or rehabilitation services as the citizens of the metropolitan areas due to the fact that health and welfare programs are not adapted to their unique needs. At the Soroka University Medical Center in Beer-Sheva, Israel, the health and rehabilitation services have a very large and heterogeneous catch-up population serving most of the south of Israel. The purpose of this study was to look at the utilization and the number of appointments for child rehabilitation services by the Bedouin population compared to the general population in the south of Israel at the Zusman Child Development Center (CDC). The records of appointments to the CDC between the years 1995-1999 inclusive were studied and we randomly chose to limit the study to January, April, July, and October of each year, and randomly chose the daily records of nine therapists, three from each discipline (occupational therapy [OT], physical therapy [PT], and speech and language therapy [SLT]). There were 8,504 appointments during these 4 months of the years 1995-1999, 2,255 of which were for Bedouin and 6,249 for Jewish children. Noncompliance with therapy appointments (NCTA) for the same period for both the Bedouins (31%) and Jewish children (26%), with a significant difference between the two populations, was noted. Of all the Jewish childrens' appointments, the percentage of all three services was similar: 33% to PT, 38% to OT, and 29% to SLT, but for the Bedouin children, the percentage between the three services was significantly different: 62% to PT, 34% to OT, and 3% to SLT. These results seem to indicate that the Bedouin families prefer the PT and OT over the SLT. Our results enhanced the need for planning a model for supplying health services adapted to clients coming from different cultures. According to this model, we need to take into consideration the cultural differences, the accessibility to rehabilitation services, and the economical impact on the family; all in all, to give a better solution to the patient with special needs.


Subject(s)
Arabs , Developmental Disabilities/ethnology , Developmental Disabilities/rehabilitation , Jews , Rehabilitation Centers/statistics & numerical data , Appointments and Schedules , Child , Humans , Israel/ethnology , Treatment Refusal
11.
Int J Adolesc Med Health ; 15(1): 93-5, 2003.
Article in English | MEDLINE | ID: mdl-12723453

ABSTRACT

Many societies worldwide are faced with an increase in adolescent pregnancy, rape, sexual abuse and sexually transmitted disease due to different sexual behaviors and sometimes lack of responsible sexual behaviors. The World Health Organization and the Surgeon General of the United States Government have called for action to this serious public health issue. In this short communication data from the United States, Canada and Israel is presented with a call for a professional response to this public health challenge.


Subject(s)
Adolescent Behavior/psychology , Risk-Taking , Sexual Behavior/psychology , Sexual Behavior/statistics & numerical data , Adolescent , Canada , Contraception Behavior/psychology , Contraception Behavior/trends , Humans , Israel , Prognosis , Psychology, Adolescent , Risk Factors , Sexual Partners/psychology , Sexually Transmitted Diseases/psychology , United States , World Health Organization
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