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Naeem F.,Lahore Institute of Research and Development | Gobbi M.,University of Southampton | Ayub M.,Psychiatry of Learning Disability | Kingdon D.,University of Southampton
International Journal of Mental Health Systems | Year: 2010

Background: Psychological therapies especially Cognitive Behaviour Therapy (CBT) are used widely in the West to help patients with psychiatric problems. Cognitive Behaviour Therapy has an established evidence base for the treatment of different emotional disorders. In spite of these developments in the developed world, patients in most developing countries hardly benefit from non pharmacological interventions. Although a significant number of psychologists are trained in Pakistan each year, psychological interventions play only a minor role in treatment plans in Pakistan. We conducted interviews with psychologists in Pakistan, to explore their experiences and their views on "providing CBT in Pakistan". These interviews were conducted as part of a project whose focus was to try to develop culturally-sensitive CBT in Pakistan.Methods: In depth semi structured interviews were conducted with 5 psychologists working in psychiatry departments in Lahore, Pakistan.Results: All the psychologists reported that psychotherapies, including CBT, need adjustments for use in Pakistan, although they were not able to elicit on these in details. Four major themes were discovered, hurdles in therapy, therapy related issues, involvement of the family and modification in therapy. The biggest hurdles in therapy were described to be service and resource issues.Conclusions: For CBT to be acceptable, accessible and effective in Non Western cultures numerous adjustments need to be made, taking into consideration; factors related to service structure and delivery, patient's knowledge and beliefs about health and the therapy itself. Interviews with the psychologists in these countries can give us insights which can guide development of therapy and manuals to support its delivery. © 2010 Naeem et al; licensee BioMed Central Ltd. Source

Kaufman L.,Center for Addiction and Mental Health | Ayub M.,Lahore Institute of Research and Development | Ayub M.,Durham University | Vincent J.B.,Center for Addiction and Mental Health | Vincent J.B.,University of Toronto
Journal of Neurodevelopmental Disorders | Year: 2010

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by 'brute force' using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID. © 2010 The Author(s). Source

Ayub M.,Durham University | Irfan M.,Lahore Institute of Research and Development | Maclean A.,University of Edinburgh | Naeem F.,Sevenacres | Blackwood D.,University of Edinburgh
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | Year: 2013

A large family with a high prevalence of recurrent major depression and high average inbreeding coefficient was ascertained from rural Pakistan. Subjects were interviewed and diagnosed by a trained psychiatrist, 370 microsatellite markers were genotyped and the program FEstim was used for homozygosity mapping. Significant linkage was found on Chromosome 9 and Chromosome 6 after fine mapping. These regions on Chromosome 6 and 9 may harbor genes which predispose to depression. © 2012 Wiley Periodicals, Inc. Source

Rafiq M.A.,Center for Addiction and Mental Health | Kuss A.W.,Max Planck Institute for Molecular Genetics | Kuss A.W.,University of Greifswald | Puettmann L.,Max Planck Institute for Molecular Genetics | And 25 more authors.
American Journal of Human Genetics | Year: 2011

We have used genome-wide genotyping to identify an overlapping homozygosity-by-descent locus on chromosome 9q34.3 (MRT15) in four consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability (NS-ARID) and one in which the patients show additional clinical features. Four of the families are from Pakistan, and one is from Iran. Using a combination of nextgeneration sequencing and Sanger sequencing, we have identified mutations in the gene MAN1B1, encoding a mannosyl oligosaccharide, alpha 1,2-mannosidase. In one Pakistani family, MR43, a homozygous nonsense mutation (RefSeq number NM-016219.3: c.1418G>A [p.Trp473*]), segregated with intellectual disability and additional dysmorphic features. We also identified the missense mutation c. 1189G>A (p.Glu397Lys; RefSeq number NM-016219.3), which segregates with NS-ARID in three families who come from the same village and probably have shared inheritance. In the Iranian family, the missense mutation c.1000C>T (p.Arg334Cys; RefSeq number NM-016219.3) also segregates with NS-ARID. Both missense mutations are at amino acid residues that are conserved across the animal kingdom, and they either reduce k cat by ∼1300-fold or disrupt stable protein expression in mammalian cells. MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency in patients with NS-ARID from different populations. © 2011 by The American Society of Human Genetics. All rights reserved. Source

Ahmed I.,Campbell Family Mental Health Research Institute | Ahmed I.,National University of Sciences and Technology | Buchert R.,Friedrich - Alexander - University, Erlangen - Nuremberg | Zhou M.,Rutgers University | And 22 more authors.
Human Molecular Genetics | Year: 2014

There are two known mRNA degradation pathways, 3′ to 5′ and 5′ to 3′. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches,we identified biallelic variants in DCPS in three affected individuals; a splice site variant (c.636+1G>A) that results in an in-frame insertion of 45 nucleotides and a missense variant (c.947C>T; p.Thr316Met). DCPS decaps the cap structure generated by 3′ to 5′ exonucleolytic degradation of mRNA. In vitro decapping assays showed an ablation of decapping function for both variants in DCPS. In another family, we identified a homozygous mutation (c.161T>C; p.Phe54Ser) in EDC3 in two affected children. EDC3 stimulates DCP2, which decaps mRNAs at the beginning of the 5′ to 3′ degradation pathway. In vitro decapping assays showed that altered EDC3 is unable to enhance DCP2 decapping at low concentrations and even inhibits DCP2 decapping at high concentration.We show that individuals with biallelic mutations in these genes of seemingly central functions are viable and that these possibly lead to impairment of neurological functions linking mRNA decapping to normal cognition. Our results further affirm an emerging theme linking aberrant mRNA metabolism to neurological defects. © The Author 2015. Source

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