Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

BACKGROUND: Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). METHODS: The proband is a 36-year-old female referred for genetic evaluation due to cognitive dysfunction, gait impairment, and corpus callosum atrophy (brain MRI was normal at 25-years-old). Diagnostic approaches included CGH array, next-generation sequencing, and whole transcriptome sequencing. RESULTS: CGH array revealed a 180 kb deletion located upstream of SPG11. Sequencing of SPG11 uncovered two rare single nucleotide variants: the novel variant c.3143C>T in exon 17 (in cis with the deletion), and the previously reported pathogenic variant c.6409C>T in exon 34 (in trans). Whole transcriptome sequencing revealed that the variant c.3143C>T caused exon 17 skipping. CONCLUSION: We report a novel sequence variant in the SPG11 gene resulting in exon 17 skipping, which, along with a nonsense variant, causes Spastic Paraplegia 11 in our proband. In addition, a deletion upstream of SPG11 was identified in the patient, whose implication in the phenotype remains uncertain. Nonetheless, the deletion apparently affects cis-regulatory elements of the gene, suggesting a potential new pathogenic mechanism underlying the disease in a subset of undiagnosed patients. Our findings further support the hypothesis that the origin of thin corpus callosum in patients with SPG11 is of progressive nature.

Traducción y validación de la versión española de la escala Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) / Translation and validation of the Spanish version of the Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD)

Introducción: La escala Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) fue creada para evaluar de forma breve el funcionamiento de las personas con trastorno de desarrollo intelectual y problemas de salud mental/trastornos de conducta. El objetivo del presente trabajo fue estudiar las evidencias sobre la validez de las puntuaciones obtenidas con la escala HoNOS-LD traducida al castellano. Material y método: La muestra estaba formada por 111 participantes que fueron evaluados con la HoNOS-LD traducida al castellano y otros cuestionarios relacionados. Para estudiar la fiabilidad entre examinadores y la fiabilidad test-retest, 33 participantes fueron evaluados por 2 examinadores y reevaluados al cabo de 7 días. Resultados: De acuerdo con criterios clínicos y conceptuales, y con el resultado del análisis paralelo, se seleccionó una solución factorial con único factor. La consistencia interna fue buena (coeficiente omega de 0,87). Las fiabilidades entre examinadores y test-retest fueron excelentes (coeficientes de correlación intraclase de 0,95 y 0,98, respectivamente). Las correlaciones entre secciones de la HoNOS-LD y los instrumentos relacionados fueron en el sentido esperado y altamente significativas (p<0,001), y la puntuación HoNOS-LD aumentaba con el nivel de apoyos necesario de los participantes, resultados que aportaron evidencia sobre la validez de asociación con otras variables externas. Conclusiones: La versión en castellano de la HoNOS-LD representa un instrumento breve, válido y fiable, que permitirá la evaluación rutinaria del funcionamiento con distintas finalidades, incluyendo el diagnóstico y la intervención

Introduction: The Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) is a brief instrument that assesses functioning in people with intellectual development disorder and mental health problems/behaviour disorders. The aim of the present study was to examine the evidence on the validity of the scores based on the Spanish version of the HoNOS-LD. Material and methods: The study included 111 participants that were assessed by the Spanish version of the HoNOS-LD and other questionnaires that measured different variables related to the scale. Thirty-three participants were assessed by 2 examiners, and retested 7 days later, in order to study inter-examiner reliability and test-retest reliabilities. Results: Based on clinical and conceptual criteria, and on the results of the parallel analysis, a factorial solution with one factor was selected. Internal consistency was good (Omega coefficient of 0.87). Inter-examiner and test-retest reliabilities were excellent (intraclass correlation coefficients of 0.95 and 0.98, respectively). Correlations between sections of the HoNOS-LD and the related instruments showed the expected direction, and were highly significant (P<.001), and the HoNOS-LD score increased with the intensity of the support required by the participants. These results showed evidence of the validity of association with other external variables. Conclusions: The Spanish version of the HoNOS-LD is a brief, valid and reliable instrument, which will enable a routine assessment of functioning for different uses, including diagnosis and intervention

A longitudinal study of brain anatomy changes preceding dementia in Down syndrome.

Background: We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression. Methods: Forty-two Down syndrome individuals were initially included, of whom 27 (mean age 46.8 years) were evaluable on the basis of completing the 2-year follow-up and success in obtaining good quality MRI exams. Voxel-based morphometry was used to estimate regional brain volumes at baseline and follow-up on 3D anatomical images. Longitudinal volume changes for the group and their relationship with change in general cognitive status and specific cognitive domains were mapped. Results: As a group, significant volume reduction was identified in the substantia innominata region of the basal forebrain, hippocampus, lateral temporal cortex and left arcuate fasciculus. Volume reduction in the substantia innominata and hippocampus was more prominent in individuals whose clinical status changed from cognitively stable to mild cognitive impairment or dementia during the follow-up. Relevantly, longitudinal memory score change was specifically associated with volume change in the hippocampus, prospective memory with prefrontal lobe and verbal comprehension with language-related brain areas. Conclusions: Results are notably concordant with the well-established anatomical changes signaling the progression to dementia in Alzheimer's disease, despite the dense baseline pathology that developmentally accumulates in Down syndrome. This commonality supports the potential value of Down syndrome as a genetic model of Alzheimer's neurodegeneration and may serve to further support the view that Down syndrome patients are best candidates to benefit from treatment research in Alzheimer's disease.

•Longitudinal changes in brain anatomy were identified in Down syndrome individuals.•Basal forebrain and hippocampal volume reductions paralleled clinical progression.•The overall anatomical pattern identified resembled Alzheimer's neurodegeneration.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs-including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1-providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

BACKGROUND: Copy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised.AimsTo determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders. METHOD: A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites. RESULTS: The yield of pathogenic CNVs was high - 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P<0.0001), schizophrenia (3.1%, P<0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations. CONCLUSIONS: In the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry.Declaration of interestNone.

Translation and validation of the Spanish version of the Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD). / Traducción y validación de la versión española de la escala Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD).

INTRODUCTION: The Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) is a brief instrument that assesses functioning in people with intellectual development disorder and mental health problems/behaviour disorders. The aim of the present study was to examine the evidence on the validity of the scores based on the Spanish version of the HoNOS-LD. MATERIAL AND METHODS: The study included 111 participants that were assessed by the Spanish version of the HoNOS-LD and other questionnaires that measured different variables related to the scale. Thirty-three participants were assessed by 2 examiners, and retested 7 days later, in order to study inter-examiner reliability and test-retest reliabilities. RESULTS: Based on clinical and conceptual criteria, and on the results of the parallel analysis, a factorial solution with one factor was selected. Internal consistency was good (Omega coefficient of 0.87). Inter-examiner and test-retest reliabilities were excellent (intraclass correlation coefficients of 0.95 and 0.98, respectively). Correlations between sections of the HoNOS-LD and the related instruments showed the expected direction, and were highly significant (P<.001), and the HoNOS-LD score increased with the intensity of the support required by the participants. These results showed evidence of the validity of association with other external variables. CONCLUSIONS: The Spanish version of the HoNOS-LD is a brief, valid and reliable instrument, which will enable a routine assessment of functioning for different uses, including diagnosis and intervention.

Validation and Normalization of the Tower of London-Drexel University Test 2nd Edition in an Adult Population with Intellectual Disability.

Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study's primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer's disease. Assessment protocol: TOLDXtm for ID, Kaufman Brief Intelligence Test Second Edition (K-BIT II), Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS), Weigl's Color-Form Sorting Test (WCFST), Barcelona Test for Intellectual Disability (BT-ID), and the Behavior Rating Inventory of Executive Function (BRIEF-P). The internal consistency (IDMi and IDMo), factor structure of the different subscales, and relationship between TOLDXtm subscales and other cognitive measures (BT-ID, WCFST, and BRIEF-P) were analyzed. A normative data table with ID population quartiles is provided. TOLDXtm for ID showed a robust one factor structure and coherentassociations with other, related neuropsychological instruments. Significant differences between IDMi and IDMo on movement-related variables like Correct (Corr; p = .002) and Moves (Mov; p = .042) were observed, along with good internal consistency values, Corr (α = .75), Mov (α = .52). Regarding internal consistency, no between-groups differences were observed (all p-value > 0.05). The TOLDXtm for ID is thus an instrument, supported by good validity evidence, to evaluate problem-solving and planning in ID. It distinguishes between individuals with mild and moderate ID, and is highly associated with other measures of executive functioning.

Anomalous White Matter Structure and the Effect of Age in Down Syndrome Patients.

BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident. METHODS: Forty-five adult non-demented Down syndrome patients showing a wide age range (18-52 years) and a matched 45-subject control group were assessed. DTI fractional anisotropy (FA) brain maps were generated and selected cognitive tests were administered. RESULTS: Compared with healthy controls, non-demented Down syndrome patients showed lower DTI FA in white matter involving the major pathways, but with more severe alterations in the frontal-subcortical circuits. White matter FA decreased with age at a similar rate in both DS and control groups. CONCLUSIONS: Our results contribute to characterizing the expression of white matter structural alterations in adult Down syndrome. However, an accelerated aging effect was not demonstrated, which may suggest that the FA measurements used are not sufficiently sensitive or, alternatively, age-related white matter neurodegeneration is not obvious prior to overt clinical dementia.

Validation and normalization of the tower of London-Drexel University Test 2nd edition in an adult population with intellectual disability

Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study’s primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer’s disease. Assessment protocol: TOLDXtm for ID, Kaufman Brief Intelligence Test Second Edition (K-BIT II), Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS), Weigl’s Color-Form Sorting Test (WCFST), Barcelona Test for Intellectual Disability (BT-ID), and the Behavior Rating Inventory of Executive Function (BRIEF-P). The internal consistency (IDMi and IDMo), factor structure of the different subscales, and relationship between TOLDXtm subscales and other cognitive measures (BT-ID, WCFST, and BRIEF-P) were analyzed. A normative data table with ID population quartiles is provided. TOLDXtm for ID showed a robust one factor structure and coherentassociations with other, related neuropsychological instruments. Significant differences between IDMi and IDMo on movement-related variables like Correct (Corr; p = .002) and Moves (Mov; p = .042) were observed, along with good internal consistency values, Corr (α = .75), Mov (α = .52). Regarding internal consistency, no between-groups differences were observed (all p-value > 0.05). The TOLDXtm for ID is thus an instrument, supported by good validity evidence, to evaluate problemsolving and planning in ID. It distinguishes between individuals with mild and moderate ID, and is highly associated with other measures of executive functioning (AU)

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A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance.

[Adaptation and validation of CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and others with intellectual disabilities) in Spanish population with intellectual disabilities]. / Adaptacion y validacion del Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en poblacion española con discapacidad intelectual.

INTRODUCTION: Dementia caused by Alzheimer's disease commonly affects the adult population with Down's syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer's disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population. AIM: To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities) in Spanish population. PATIENTS AND METHODS: 146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study. RESULTS: Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p < 0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p < 0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach's alpha scored 0.93. CONCLUSIONS: The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down's syndrome.

TITLE: Adaptacion y validacion del Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en poblacion española con discapacidad intelectual.Introduccion. La demencia causada por la enfermedad de Alzheimer afecta comunmente a la poblacion adulta con sindrome de Down. Esta poblacion presenta dos rasgos clinicos caracteristicos: la presencia de demencia con semiologia distinta a la enfermedad de Alzheimer tipica y deficits intelectuales previos que pueden confundir el diagnostico clinico. Existe una evidente necesidad de validar instrumentos especificos en castellano adaptados a esta poblacion. Objetivo. Adaptar y validar el Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en poblacion española. Pacientes y metodos. Se consideraron 146 pacientes con discapacidad intelectual (leve-moderada). Se realizo un estudio de validacion de tipo observacional, transversal y multicentrico. Se administraron los siguientes tests: CAMDEX-DS, test breve de inteligencia de Kaufman y Dementia Questionnaire for Persons with Mental Retardation. Se calculo la fiabilidad test-retest, la fiabilidad interjueces, la concordancia del CAMDEX-DS para el diagnostico clinico y la validez. Resultados. La fiabilidad test-retest e interjueces obtuvo un coeficiente kappa de 0,92 y 0,91, respectivamente. El indice kappa del CAMDEX-DS para el diagnostico clinico respecto al resto de los criterios clinicos utilizados fue alto: CAMDEX-DS frente a DSM-IV (kappa = 0,95; p < 0,001); CAMDEX-DS frente a Clasificacion Internacional de Enfermedades, decima revision (kappa = 0,97; p = 0,000). Todas las correlaciones item-test oscilaban entre 0,31 y 0,69. La fiabilidad interna calculada mediante el alfa de Cronbach fue de 0,93. Conclusiones. La version española del CAMDEX-DS es un instrumento valido, de alta aplicabilidad a personas con discapacidad intelectual, que muestra buenas propiedades psicometricas. El Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) permite establecer dos puntos de corte para la sospecha de deterioro cognitivo en el grupo de personas con sindrome de Down en funcion del nivel de discapacidad intelectual previo.

Adaptación y validación del Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en población española con discapacidad intelectual / Adaptation and validation of CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities) in Spanish population with intellectual disabilities

síndrome de Down. Esta población presenta dos rasgos clínicos característicos: la presencia de demencia con semiología distinta a la enfermedad de Alzheimer típica y déficits intelectuales previos que pueden confundir el diagnóstico clínico. Existe una evidente necesidad de validar instrumentos específicos en castellano adaptados a esta población. Objetivo. Adaptar y validar el Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en población española. Pacientes y métodos. Se consideraron 146 pacientes con discapacidad intelectual (leve-moderada). Se realizó un estudio de validación de tipo observacional, transversal y multicéntrico. Se administraron los siguientes tests: CAMDEX-DS, testbreve de inteligencia de Kaufman y Dementia Questionnaire for Persons with Mental Retardation. Se calculó la fiabilidad test-retest, la fiabilidad interjueces, la concordancia del CAMDEX-DS para el diagnóstico clínico y la validez. Resultados. La fiabilidad test-retest e interjueces obtuvo un coeficiente kappa de 0,92 y 0,91, respectivamente. El índice kappa del CAMDEX-DS para el diagnóstico clínico respecto al resto de los criterios clínicos utilizados fue alto: CAMDEX-DS frente a DSM-IV (kappa = 0,95; p < 0,001); CAMDEX-DS frente a Clasificación Internacional de Enfermedades, décima revisión (kappa = 0,97; p = 0,000). Todas las correlaciones ítem-test oscilaban entre 0,31 y 0,69. La fiabilidad interna calculada mediante el alfa de Cronbach fue de 0,93. Conclusiones. La versión española del CAMDEX-DS es un instrumento válido, de alta aplicabilidad a personas con discapacidad intelectual, que muestra buenas propiedades psicométricas. El Cambridge Cognitive Examination for Older Adults with Down’s Syndrome (CAMCOG-DS) permite establecer dos puntos de corte para la sospecha de deterioro cognitivo en el grupo de personas con síndrome de Down en función del nivel de discapacidad intelectual previo (AU)

Introduction. Dementia caused by Alzheimer’s disease commonly affects the adult population with Down’s syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer’s disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population. Aim. To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities) in Spanish population. Patients and methods. 146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study. Results. Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p < 0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p < 0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach’s alpha scored 0.93.Conclusions. The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down’s Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down’s syndrome (AU)

Envejecimiento saludable en personas con síndrome de Down y demencia: necesidad de promover programas de formación y soporte a los usuarios, familias y entidades / Healthy ageing in people with Down syndrome and dementia: the need to foster education and support programs for individuals, families and organizations

La mayoría de las personas con síndrome de Down (SD) llegan a una edad en que, como ciudadanos seniors, tienen una serie de necesidades que deben ser consideradas y atendidas, obligando a unas intervenciones de anticipación y prevención. Esta realidad ya está generando dificultades en los servicios que tienen la responsabilidad de atenderlos, a sus propias familias y a los propios afectados. Cuando una persona con SD inicia un proceso de deterioro cognitivo o demencia, se hace evidente la inadecuada y escasa planificación de políticas y, al mismo tiempo, la falta de provisión de servicios. La Organización Mundial de la Salud (OMS) en colaboración con la Asociación Internacional para el Estudio Científico de Discapacidades Intelectuales (IASSID)y de Inclusión Internacional ha desarrollado un informe que recoge las necesidades sociales y sanitarias de las personas con discapacidad intelectual en proceso de envejecimiento, entre ellos las personas con SD. En el mismo documento de trabajo se señala como prioritaria la necesidad de que cada país de la Unión Europea desarrolle «Proyectos para el envejecimiento saludable» que conduzcan a la inclusión social de forma natural mejorando el soporte y la formación de los cuidadores formal ese informales. Se presenta a continuación una primera aproximación a la posible creación de programas para personas con SD y deterioro-cognitivo/demencia (AU)

Most individuals with Down syndrome (DS) reachan advanced age which gives rise to specific needs.These must be considered and addressed, through anticipationand prevention. Difficulties are already emergingin services responsible for this population, as wellas for the individuals concerned and their relatives. Theinadequacy and unsuitability of policy planning andlack of adequate services are made apparent whenevera person with DS begins to develop cognitive deteriorationor dementia.The World Health Organization (WHO) has drawnup, in conjunction with the International Associationfor the Scientific Study of Intellectual Disabilities(IASSID) and Inclusion International, a report on thesocial and health care needs of aging persons with intellectualdisabilities, including those with DS. This workingdocument highlights as a priority the need for eachcountry in the European Union to implement «Projectsfor Healthy Aging» that are naturally conducive to socialinclusion while improving support and training forboth formal and informal caregivers. The present articleprovides a rough outline for potential future programstargeting individuals with DS and cognitive deteriorationor dementia (AU)