Biomedical subjects

J E Farmer

Publications and source records attributed to J E Farmer.

9 recordsLinked to original sources

PubMed2005

Essential versus complex autism: definition of fundamental prognostic subtypes.

Heterogeneity within the autism diagnosis obscures the genetic basis of the disorder and impedes our ability to develop effective treatments. We found that by using two readily available tests, autism can be divided into two subgroups, "essential autism" and "complex autism," with different outcomes and recurrence risks. Complex autism consists of individuals in whom there is evidence of some abnormality of early morphogenesis, manifested by either significant dysmorphology or microcephaly. The remainder have "essential autism." From 1995 to 2001, 260 individuals who met DSM-IV criteria for autistic disorder were examined. Five percent (13/260) were microcephalic and 16% (41/260) had significant physical anomalies. Individually, each trait predicted a poorer outcome. Together they define the "complex autism" subgroup, comprising 20% (46/233) of the total autism population. Individuals with complex autism have lower IQs (P=0.006), more seizures (P=0.0008), more abnormal EEGs (46% vs. 30%), more brain abnormalities by MRI (28% vs. 13%). Everyone with an identifiable syndrome was in the complex group. Essential autism defines the more heritable group with higher sib recurrence (4% vs. 0%), more relatives with autism (20% vs. 9%), and higher male to female ratio (6.5:1 vs. 3.2:1). Their outcome was better with higher IQs (P=0.02) and fewer seizures (P=0.0008). They were more apt to develop autism with a regressive onset (43% vs. 23%, P=0.02). Analysis of the features predictive of poor outcome (IQ<55, functionally non-verbal) showed that microcephaly was 100% specific but only 14% sensitive; the presence of physical anomalies was 86% specific and 34% sensitive. The two tests combined yielded 87% specificity, 47% sensitivity, and an odds ratio of 4.8:1 for poor outcome. Separating essential from complex autism should be the first diagnostic step for children with autism spectrum disorders as it allows better prognostication and counseling. Definition of more homogeneous populations should increase power of research analyses.

Adolescent↗

PubMed2005

Joubert syndrome is not a cause of classical autism.

A previous report noted a 27% prevalence of autism in Joubert syndrome (JS), raising the question of overlapping etiologies. Family studies have shown that autism is characterized by family loading for a number of specific behavioral and psychiatric disorders and that the sib recurrence risk is around 4%. The purpose of this study is to determine whether children with Joubert and their families show behavioral or genetic characteristics similar to autism. Thirty-one volunteer Joubert families were identified. Parents completed a semi-structured family history interview and the Autism Behavioral Checklist. Rates of family loading for neuropsychiatric disorders in the JS families were compared to autism family history data and Down syndrome (DS) controls. The JS families had significantly lower rates of autism, alcoholism, cognitive, and language disorders than the autism families. Their rate of depression was lower, but not significantly different from that found in autism families. None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism. Different genes with different inheritance patterns that affect neurodevelopment of the cerebellum could explain the clinical similarities previously reported in JS and autism.

Abnormalities, Multiple↗

PubMed2003

Gonadotrophin-releasing hormone analogues for endometriosis: bone mineral density.

BACKGROUND: Gonadotrophin-releasing hormone analogues (GnRHas) are generally well tolerated, and are effective in relieving the symptoms of endometriosis (Prentice 2003). Unfortunately the low oestrogen state that they induce is associated with adverse effects including an acceleration in bone mineral density (BMD) loss. OBJECTIVES: To determine the effect of treatment with gonadotrophin-releasing hormone analogues (GnRHas) on the bone mineral density of women with endometriosis, compared to placebo, no treatment, or other treatments for endometriosis, including GnRHas with add-back therapy. SEARCH STRATEGY: We searched the Cochrane Menstrual Disorders and Subfertility Group's specialised register of controlled trials (23rd October 2002) and the Cochrane Central Register of Controlled Trials (Cochrane Library, issue 4, 2002). We also carried out electronic searches of MEDLINE (1966 - March Week 2 2003) and EMBASE (1980 - March Week 2 2003). We also searched the reference lists of articles and contacted researchers in the field. SELECTION CRITERIA: Prospective, randomised controlled studies of the use of GnRHas for the treatment of women with endometriosis were considered, where bone density measurements were an end point. The control arm of the studies was either placebo, no treatment, another medical therapy for endometriosis, or GnRHas with add-back therapy. DATA COLLECTION AND ANALYSIS: Two reviewers (JF and MS) independently assessed trial quality and extracted data. Study authors were contacted for additional information. MAIN RESULTS: Thirty studies involving 2,391 women were included, however only 15, involving 910 women, could be included in the meta-analysis. The meta-analysis showed that danazol and progesterone + oestrogen add-back are protective of BMD at the lumbar spine both during treatment and for up to six and twelve months after treatment, respectively. Between the groups receiving GnRHa and the groups receiving danazol/gestrinone, there was a significant difference in percentage change of BMD after six months of treatment, the GnRH analogue producing a reduction in BMD from baseline and danazol producing an increase in BMD (SMD -3.43, 95 % CI -3.91 to -2.95). Progesterone only add-back is not protective; after six months of treatment absolute value BMD measurements of the lumbar spine did not differ significantly from the group receiving GnRH analogues (SMD 0.15, 95 % CI -0.21 to 0.52). In the comparison of GnRHa versus GnRHa + HRT add-back, that is oestrogen + progesterone or oestrogen only, there was a significantly bigger BMD loss in the GnRHa only group (SMD -0.49, 95 % CI -0.77 to -0.21). These numbers reflect the absolute value measurements at the lumbar spine after six months of treatment. Due to the small number of studies in the comparison we are unable to conclude whether calcium-regulating agents are protective. No difference was found between low and high dose add-back regimes but again only one study was identified for this comparison. Only one study comparing GnRH analogues with placebo was identified, but the study gave no data. No studies comparing GnRH with the oral contraceptive pill (OCP) or progestagens were identified. REVIEWER'S CONCLUSIONS: Both danazol and progesterone + oestrogen add-back have been shown to be protective of BMD, while on treatment and up to six and 12 months later, respectively. However, by 24 months of follow-up there was no difference in BMD in those women who had HRT add-back. Studies of danazol versus GnRHa did not report long-term follow-up. The significant side effects associated with danazol limit its use.

Bone Density↗

PubMed2001

Telehealth for children with special health care needs: promoting comprehensive systems of care.

This study identified ways that telehealth systems are used to enhance service delivery for children with special health care needs. Various health professionals utilize telehealth to provide physical and behavioral health care, to conduct developmental evaluations, and to address family/social concerns. Telehealth is used most for follow-up visits after in-person specialty care and for child evaluation with treatment recommendations to local care providers. Telehealth systems have the potential to increase access to specialized services and to enhance community-based services for rural and underserved children. However, inadequate reimbursement poses a significant barrier to the development of these services.

Child↗

PubMed1998

Parent perceptions about the process and outcomes of child neuropsychological assessment.

The purpose of this study was to evaluate the impact of child neuropsychological evaluations from the parent's perspective. Fifty-five parents of children with neurodevelopmental problems completed a 19-item questionnaire, indicating their assessment of the process and outcomes of the evaluation. Respondents reported an increased understanding of the child's impairments and strengths, greater knowledge about treatment strategies and community resources, improved school services, and a high level of overall satisfaction. The strongest predictors of overall satisfaction were (a) perceptions of the professional's concern and technical competence and (b) ratings of the recommendations provided. Child neuropsychological evaluations have the potential to improve child outcomes by influencing multiple systems of care, including family, health care providers, educational programs, and community service agencies.

Journal Article↗

PubMed1997

Preparing neuropsychologists for the future: The need for additional training guidelines.

New guidelines for training in neuropsychology are needed for several reasons: increased diagnostic accuracy of neuroradiologic techniques: an increasing need for functional neuropsychological evaluations; emergence of other psychological specialties; and managed care/economic factors. Current INS-Division 40 guidelines emphasize neurological and diagnostic areas with minimal suggestions for training in rehabilitation and functional issues. The recent publication of training guidelines for Rehabilitation Psychology (APA Division 22) illustrates weaknesses in Division 40 training. It is proposed that neuropsychological training guidelines (formal guidelines and informal training experiences) incorporate another content area for training and demonstration of competency, defined as Functional Outcomes. Specific training is suggested in: (a) issues in disability; (b) ecological validity of tests; (c) vocational evaluation/training; (d) academic programs for students with disabilities; (e) independent living resources; (f) specific cognitive-behavioral interventions; (g) resources for individuals with disabilities; and (h) government assistance programs for individuals with disabilities.

Journal Article↗

PubMed1996

Assessing children with traumatic brain injury during rehabilitation: promoting school and community reentry.

Children with traumatic brain injuries (TBI) require a comprehensive, multidisciplinary evaluation during rehabilitation to promote recovery and to facilitate a smooth transition to home and school. This article summarizes the common consequences of TBI and reviews a process-oriented approach to assessing children with moderate to severe TBI during rehabilitation. An emphasis is placed on early and regular communication among rehabilitation specialists, family members, and educators. Such collaboration permits clear identification of functional abilities and increases the child's potential for a positive long-term outcome.

Achievement↗

PubMedDate not supplied

The relationship between neuropsychological functioning and instrumental activities of daily living following acquired brain injury.

The present study examined the ecological validity of neuropsychological tests relative to instrumental activities of daily living (IADLs) among 55 participants in a post-acute brain injury rehabilitation program. Stronger intellectual abilities, visual memory, delayed memory, verbal learning, and cognitive flexibility were significantly associated with success on the IADL tasks. However, each IADL task placed unique demands on cognitive abilities. Behavioral ratings of attention span and frustration tolerance also were positively related to task completion. Multiple aspects of patient functioning (neuropsychological abilities, self-regulatory behaviors), as well as task characteristics, must be considered to predict outcomes in everyday functioning.

Journal Article↗

PubMedDate not supplied

The brain injury rehabilitation scale (BIRS): a measure of change during post-acute rehabilitation.

This article describes the development of the Brain Injury Rehabilitation Scale (BIRS), a 20-item scale rating attention, memory, cognition, goal-directed behaviour, social interaction, and adjustment to injury. The BIRS was designed to provide ratings of clinical progress during post-acute rehabilitation from the perspective of the patient, the family and the treating staff. The BIRS was administered to two groups. Group one included five patients in a post-acute rehabilitation programme who were administered the BIRS each week for the 24 weeks of the programme. Group two was a control group composed of 21 college students. The BIRS was administered to each control subject for three consecutive weeks. The BIRS was found to be a sensitive and reliable measure of rehabilitation progress. Inter-rater reliability was high. Further evaluation of the BIRS is warranted.

Activities of Daily Living↗