Process of Deinstitutionalization of Aging Individuals With Severe and Disabling Mental Disorders: A Review.

Background: For more than 60 years, psychiatric services has gradually gone from an asylum model to a community model. This change has led to the emergence of a deinstitutionalization movement. This movement seems to have left behind long-term hospitalized aging individuals with severe and disabling mental disorders.

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.

Introduction: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes.

Methods: We found a disease-segregating mutation in the X-linked AIFM1 gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1.

The French Integrative Psychosocial Rehabilitation Assessment for Complex Situations (FIPRACS): Modelization of an Adapted Assessment Method Toward Long-Term Psychiatric Inpatients With Disabling, Severe and Persistent Mental Illness.

For the past forty years, the generalization of community-based approaches has prompted psychiatry into promoting a deinstitutionalization movement and a psychosocial rehabilitation approach (PSR) for individuals with schizophrenia and related difficulties. Unfortunately, this approach generally does not involve the most severe cognitive and psycho-affective clinical situations among this population despite an increasing number of publications advocating that all individuals should be included in PSR and deinstitutionalization programs. In this context, considering the absence of an assessment battery designed for French individuals with particularly disabling, severe, and persistent mental illness (IDSPMI), we constructed an integrative assessment model adapted to this specific population.

Health professional's social representation about ederly subject with mental health disorders: a pilot study on 790 health professionals.

Objectives: The objective of the present study was to identify the structure and content of the Social Representation (SR) of health professionals regarding elderly subjects with mental health disorders and compare the latter to the lay Social Representation identified in the literature.

Method: The structure and content of the SR of health professionals was examined in 790 careproviders from the 'Grand Est' region of France through the use of the free and hierarchical associations methodology of Abric and Vergés. A prototypical and categorical analysis as well as a similarity analysis and factorial correspondence analysis were applied to the results.

The psychosocial age: a tool to reduce the institutional stigma of elderly people with mental disorders.

In line with previous studies on elderly with mental disorders discrimination, a concept called "Psychosocial age" has been methodologically formalized and mathematically modelized. Its aim is to support health providers and hinder stigmatization process which is influenced by social representations of our population. This article presents the construction of this indicator and its clinical implications.

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.

Objectives: Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness.

Methods: Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families.

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. Autosomal recessive non-syndromic hearing loss is one of the most prevalent human genetic sensorineural defects. Myopia is by far the most common human eye disorder that is known to have a clear heritable component.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Objectives: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. In this study, we investigated the geneticcause of sensorineural hearing loss in Moroccan patients and presented the importance of whole exome sequencing (WES) to identify candidate genes in two Moroccan families with profound deafness.

Methods: After excluding mutations previously reported in Moroccan deaf patients, whole exome sequencing was performed and Sanger sequencing was used to validate mutations in these genes.

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.

Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive (DFNB86) and one dominant (DFNA65) mutations have so far been identified in consanguineous Pakistani and European/Chinese families, respectively. Here we report the results of a genetic study performed on a large Moroccan cohort of deaf patients that identified three families with compound heterozygote mutations in TBC1D24.