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G Strathdee

Publications and source records attributed to G Strathdee.

At least 37 records · Page 2Linked to original sources
PubMed1996

Neuropsychiatry of 18q- syndrome.

Our understanding of neuropsychiatric abnormalities in patients with deletions of the long arm of chromosome 18 (18q- syndrome) is based mainly on sporadic case reports. We characterized the neuropsychiatric phenotype in 27 patients across a wide age range (2-47 years) with breakpoints ranging from 18q22.3-18q21.2. Adaptive behavior scores (Vineland Composite) were significantly higher in females than in males (62 +/- 5 vs. 43 +/- 3). Intelligence ranged from borderline to severely deficient (IQ, 73- < 40), with academic achievement similarly impaired. Performance in specific neuropsychological functions, including attention, novel problem solving, memory, language, visuomotor integration, and fine motor dexterity, was consistently in the moderately-to-severely impaired range. Behavioral problems were common in both sexes, including aggressivity, hyperactivity, and temper tantrums. Contrary to the few previous reports, we found no evidence of psychosis in any patients. In a subset of patients selected on the basis of no prior knowledge of behavioral problems, 1 of 16 patients (6%) had autism, as defined by the Autistic Diagnostic Interview--Revised (ADI-R) [Lord et al., 1994: J Autism Dev Disord 24:659-685]. Thus, the prevalence of autism in 18q- syndrome is probably no greater than that in other developmental disabilities with a similar level of cognitive impairment. In contrast to what has been believed since 18q- was first described 30 years ago, we found no relationship between chromosome deletion size and any measure of cognition or behavior; nor were there any correlations between any of these measures with the presence or absence of abnormalities on MRI or somatosensory-evoked potentials.

Adaptation, Psychological↗
PubMed1996

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin. Patients with Barber-Say syndrome also have hypertrichosis. We present a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome. We review AMS and BSS as compared with our patient, and recognize cutis laxa as a feature shared by all. We propose that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.

Abnormalities, Multiple↗
PubMed1996

A new deletion of 18q23 with few typical features of the 18q- syndrome.

We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the extent of the deletion, and a terminal deletion of 18q23 was confirmed. The deleted region includes the gene for myelin basic protein, suggesting that hemizygosity of this gene does not invariably lead to mental and developmental delay. The clinical presentation of this patient suggests that either she is not deleted for the genes involved in the 18q- clinical phenotype or this patient represents one end of the spectrum of the clinical variability seen with 18q terminal deletions.

Abnormalities, Multiple↗
PubMed1995

Analysis of clinical variation seen in patients with 18q terminal deletions.

Twenty-six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q- syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions ranging from 18q21.1-qter to 18q22.3-qter were detected. The parental origin of the deletions was determined by the analysis of inheritance of microsatellite markers. No correlation between size, parental origin, or severity of the resulting phenotype was found. The results suggest that a critical region for 18q- syndrome lies in the most distal portion of 18q and that it confers susceptibility for the various clinical manifestations of the 18q- syndrome when present in one copy.

Abnormalities, Multiple↗
PubMed1995

The Camberwell Assessment of Need: the validity and reliability of an instrument to assess the needs of people with severe mental illness.

BACKGROUND: People with severe mental illness often have a complex mixture of clinical and social needs. The Camberwell Assessment of Need (CAN) is a new instrument which has been designed to provide a comprehensive assessment of these needs. There are two versions of the instrument: the clinical version has been designed to be used by staff to plan patients' care; whereas the research version is primarily a mental health service evaluation tool. The CAN has been designed to assist local authorities to fulfil their statutory obligations under the National Health Service and Community Care Act 1990 to assess needs for community services. METHOD: A draft version of the instrument was designed by the authors. Modifications were made following comments from mental health experts and a patient survey. Patients (n = 49) and staff (n = 60) were then interviewed, using the amended version, to assess the inter-rater and test-retest reliability of the instrument. RESULTS: The mean number of needs identified per patient ranged from 7.55 to 8.64. Correlations of the inter-rater and test-retest reliability of the total number of needs identified by staff were 0.99 and 0.78 respectively. The percentage of complete agreement on individual items ranged from 100-81.6% (inter-rater) and 100-58.1% (test-retest). CONCLUSIONS: The study suggests that the CAN is a valid and reliable instrument for assessing the needs of people with severe mental illness. It is easily learnt by staff from a range of professional backgrounds, and a complete assessment took, on average, around 25 minutes.

Adult↗
PubMed1994

Community psychiatric nurse teams: intensive support versus generic care.

BACKGROUND: This study evaluated whether a community psychiatric nurse (CPN) team providing a comprehensive aftercare service, using a case management approach, improves psychopathology and social functioning of the long-term mentally ill, and reduces hospital use compared with a generic CPN team. METHOD: Patients suffering from severe and persistent mental health problems were randomised to intensive aftercare or generic care after referral to the CPN manager. Each group contained 41 patients who were assessed at baseline and at 6, 12 and 18 months by an independent research psychologist. Outcome measures included the GAS, PSE, SAS, patient and relatives' satisfaction, number of admissions, and length of stay. RESULTS: No difference between the groups was found on any of the outcome measures, despite the much higher number of contacts of the intensive (n = 52) versus generic CPNs (n = 13) and the much greater range of interventions. CONCLUSIONS: Intensive aftercare for people with persistent mental health problems was not found to be of greater benefit than generic CPN care. Many factors need to be considered for aftercare to be effective, including community resources, process of care, and staff training.

Activities of Daily Living↗
PubMed1994

Interstitial deletions are not the main mechanism leading to 18q deletions.

Most patients who present with the 18q- syndrome have an apparent terminal deletion of the long arm of chromosome 18. For precise phenotypic mapping of this syndrome, it is important to determine whether the deletions are terminal deletions or interstitial deletions. A human telomeric YAC clone has been identified that hybridizes specifically to the telomeric end of 18q. This clone was characterized and used to analyze seven patients with 18q deletions. By FISH and Southern blotting analysis, all patients were found to lack this chromosomal region on their deleted chromosome, demonstrating that the patients do not have cryptic interstitial deletions.

Base Sequence↗
PubMed1993

Asian inpatients in a district psychiatric unit: an examination of presenting features and routes into care.

The case notes of one hundred consecutive Asian admissions at first presentation to a distric psychiatric unit were examined. Asian admissions to Greenwich Hospital comprise a young, well educated group of predominantly Punjabi Sikhs. They present mostly through crisis services often following a domiciliary visit. General practitioners (GPs) were involved in only 34% of referrals although 54% of patients had Asian GPs. They are less likely to be compulsorily admitted than has previously been reported and very infrequently came into contact with police services. Alcoholism was found mostly in male married Sikhs. Psychotic illness accounted for 51% of presentations and neurotic depression for 18%, the latter being the largest single diagnostic category. This study raises questions regarding preferred routes into care for Asians and has service implications when considering establishment of accessible community services.

Acculturation↗
PubMed1992

Job share a consultant post.

Job sharing offers advantages to both employer and employee but it is still uncommon in medicine. Based on the experiences of two psychiatrists sharing a consultant post this article describes some of the problems in obtaining a job share. The most difficult part can be getting an interview, and once a post has been obtained the terms and conditions of service may have to be modified to suit job sharing. Getting on well with your job sharing partner and good communication will not only help overcome the obstacles but ensure that the sharing is successful.

Employment↗
PubMed1992

The domiciliary consultation service: outdated anachronism or essential part of community psychiatric outreach?

This paper describes a retrospective audit of a domiciliary visiting service in adult psychiatry in one district over a six-month period. General practitioners requested urgent assessment visits for three-quarters of the sample population, but were not present when the consultant attended. When the referrals were compared to the official definition of a domiciliary visit, less than a third were considered to fit the criteria. The implications of these findings are discussed.

England↗
PubMed1991

Mental health.

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Adult↗