History Of Intellectual Disability Research Articles

Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance: A case report

Rationale: If one of the partners is having balanced autosomal translocation, it is usually observed that the offspring inherit either normal chromosomes, balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having translocation. Concern: A unique case presented with history of 8 miscarriages for genetic counseling. The last abortus material evaluation showed monosomy of chromosome X (Turner syndrome) in all the analyzed cells. There was a history of infertility and also repeated second trimester abortions on the paternal side. On the maternal side, there was a history of intellectual disability. Diagnose: History of repeated abnormal pregnancy outcomes. Wife’s karyotype is normal; however, husband shows translocation between chromosome 4 and 22. Intervention: Peripheral blood sample around 3 mL was collected for karyotype. Embryo biopsy was done and DNA was extracted and processed for whole exome sequencing. Outcomes: Wife’s karyotype is normal and husband has translocation between chromosome 4 and 22. Surprisingly, the entire pregnancy outcome including embryo screening has different, complete or partial aneuploidies of chromosomes other than chromosome 4 and 22. Main lesson: Though the translocation in one of the parent is balanced, we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell division. Option of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

SAT343 Nicotinamide Nucleotide Transhydrogenase (NNT)-related Familial Glucocorticoid Deficiency: More Than Adrenal Insufficiency

Abstract Disclosure: A. Shanker: None. H.L. Calero: None. K. DeCarlo: None. Background: Familial glucocorticoid deficiency (FGD) is a rare cause of primary adrenal insufficiency, with an estimated prevalence of fewer than 5,000 cases in the United States. Patients often present as infants with signs including hypoglycemia, failure to thrive, seizures, and recurrent infections. Clinical Case: A 25-year-old woman with a history of intellectual disability was admitted with MIS-A due to COVID-19. Her presenting symptoms were lethargy and fever for several days. Her vitals were significant for a heart rate of 122 with atrial flutter and blood pressure of 90/50. Her initial labs showed elevated TSH (24.07 mcIU/mL [0.35-4.00]), normal free T4 (0.7 ng/dL [0.6-1.7]), hyponatremia (133 mmol/L [135-145]), and low alkaline phosphatase (25 U/L [40-125). Her physical exam was notable for hyperpigmentation, macrognathia, and oral mucositis. Her parents report she has limited daily activities and recalls recurrent illnesses as a child. She has been amenorrheic for the past 5 years; menarche was at age 12. Further chart review revealed that ketotic hypoglycemic seizure was diagnosed during hospitalization at 11 months of age. . Pediatric Endocrinology diagnosed Addison’s disease, which was treated until age 12 when she was lost to follow-up. On this admission, ACTH was elevated (756.5 pg/mL [7.2 - 63.3]), 8 AM cortisol was 1.2 ug/dL, and peak cortisol obtained after high dose co-syntropin stimulation was abnormal at 1.1 ug/dL upon high dose. Primary adrenal insufficiency was confirmed, and stress-dose steroids were initiated; her clinical condition improved. She was discharged with prednisone and fludrocortisone maintenance therapy. As an outpatient, TSH was persistently elevated (17.9 mcIU/mL [0.35-4.00]) and weight-based levothyroxine was initiated. Secondary amenorrhea testing demonstrated normal FSH, LH, and estradiol levels and discussions began regarding progesterone withdrawal testing (pending given patient again lost to follow up). The nutritional screening revealed deficiencies in vitamins A, C, and D, and supplementation was initiated. A unifying diagnosis was reached with microarray and whole exome sequencing showing nicotinamide nucleotide transhydrogenase (NNT) -related FGD. Conclusions: In FGD, several causative genes have been identified. One of these, NNT is expressed in most tissues, including cardiac, renal, thyroid, gastrointestinal, and gonadal tissue. This may predispose patients to organ dysfunction outside of the prominent effect on the adrenal glands. Since NNT is widely expressed, routine screening can include nutritional, renal, and hepatic labs and patients should receive reproductive counseling due to the risk of gonadal dysfunction. Therefore, patients with NNT-related glucocorticoid FGD require significant care coordination to ensure that patients receive uninterrupted therapy and appropriate multispecialty follow-up. Presentation: Saturday, June 17, 2023

Abstract- Poster

Background:Lennox Gastaut Syndrome (LGS) is an age related, epileptic encephalopathy of varied etiology. The syndrome is characterized by multiple seizure types, intellectual failure and/or behavioural disturbance and by EEG abnormalities. ADHD and epilepsy are both common childhood disorders and can have negative consequences on child’s health.Aim:To highlight the psychiatric manifestations of LGSMethod:A 11 year old male child presented with complaints of aggressiveness, self injurious behavior, increased activity, impulsive behavior since 9 years, on in-patient basis. The patient has H/o delayed cry at birth, delayed milestones, epilepsy (GTCS, myoclonic and absence seizure type). Last seizure episode is 1 month back. It is associated with severe intellectual disability. There is presence of multiple self injury marks on left foot and right thigh.Family history of intellectual disability in father and maternal uncle. Disturbed family environment is present.IQ- 32; EEG report: awaitedResults:The patient is on Tab Sodium Valproate 750mg, Tab Clonidine 125 g, Tab Risperidone 4mg, Tab Aripiprazole 2.5mg. Neurologist opinion Is taken. Follow up is awaited.Conclusion:LGS is a disease that evolves, and therefore the challenges of diagnosis can cause delays in treatment, resulting in poorer overall outcomes. Behavioural problems, including hyperactivity, agitation, aggression could be present. Hence it should be approached holistically.Ninety-nine respondents participated in the study (female: 63.6%; Malay: 41.4%; mean age: 46.4 years). The median duration of illness was 6.0 years. More respondents were taking combination therapy (59.6%). There was a statistically significant correlation between ISMI and MDIS scores (rs = 0.339, P = 0.001). On bivariate analyses, intact insight was associated with non-Malay race, combination therapy, higher average ISMI scores and subscores for alienation, stereotype endorsement, discrimination experience, and social withdrawal. Combination therapy, higher scores for alienation, and social withdrawal subscales were associated with a greater likelihood for intact insight in logistic regression model.

A Case of Potential Inborn Error of Metabolism as a Cause of Young Onset Psychosis

Introduction: Young onset psychosis has poor prognosis, and inborn errors of metabolism (IEM) can be easily missed. There is scarce information regarding IEM and young onset psychosis in Malaysia. Case Report: A 15-year-old Malay girl presented at the age of 8 years with a history of intellectual disability and neuro-regression, subsequently developing psychotic and obsessive-compulsive symptoms several years later. Organic workup revealed elevated lactate levels. Urine organic acid chromatogram revealed a moderate peak of lactate however most other investigations were normal. As MRI brain is normal and there are no neurological signs it appears less likely there is an underlying IEM-related aetiology for psychosis. Discussion: Various IEMs can be related to psychosis however the incidence is very low and quality of evidence is poor. Thus, any psychiatric presentation, particularly with suggestive clinical signs, should warrant an organic (including IEM) workup since these causes are potentially reversible with supplementation.

It might not be just an intellectual disability: Change of behavior masking the diagnosis of cancer in a psychiatry unit

IntroductionIntellectually disabled people are vulnerable to somatic and mental illnesses, often presenting behaviour changes. Moreover, difficulties in describing symptoms can limit their access to healthcare system and adequate treatment.ObjectivesThrough a case report, we aim to provide an overview on behaviour changes in people with intellectual disability (ID), emphasizing the screening for organic conditions.MethodsDescription of a clinical case and a qualitative review about the assessment of behaviour changes in persons with ID, using PubMed database.ResultsWe present a clinical case of a 57-year-old man with history of ID, alcohol and tobacco abuse and Epilepsy. He had previous acute psychiatric admissions due to behaviour disorganization and irritability. In January he was admitted with disorganized behaviour and caregiver exhaustion, and stabilized with Olanzapine 20mg/day. On the 28th day of hospitalization, he fell of his of bed and suffered a mild traumatic brain injury. Cerebral CT scan revealed two metastatic lesions in the brain. Further investigations found out primary neoplastic lung lesion and multiple metastasis. Afterwards, his relatives mentioned a heavy familiar history of cancer and that he had postural instability signs that they did not value.ConclusionsAlthough psychiatric disorders are common in patients with ID, we must always remind that behaviour changes can mask the presentation of an organic disease. Despite a long follow-up in Psychiatry, organic conditions should be considered when patients with ID present behaviour changes. Further studies are needed in the assessment of this particular population to provide proper medical, psychological and social care.

Adverse outcomes after major surgery in children with intellectual disability.

To evaluate outcomes after major surgery in children and adolescents with intellectual disability. We used 2004 to 2013 claims data from Taiwan's National Health Insurance programme to conduct a nested cohort study, which included 220292 surgical patients aged 6 to 17years. A propensity score matching procedure was used to select 2173 children with intellectual disability and 21730 children without intellectual disability for comparison. Logistic regression was used to calculate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) of the postoperative complications and 30-day mortality associated with intellectual disability. Children with intellectual disability had a higher risk of postoperative pneumonia (OR 2.16, 95% CI 1.48-3.15; p<0.001), sepsis (OR 1.67, 95% CI 1.28-2.18; p<0.001), and 30-day mortality (OR 2.04, 95% CI 1.05-3.93; p=0.013) compared with children without intellectual disability. Children with intellectual disability also had longer lengths of hospital stay (p<0.001) and higher medical expenditure (p<0.001) when compared with children with no intellectual disability. Children with intellectual disability experienced more complications and higher 30-day mortality after surgery when compared with children without intellectual disability. There is an urgent need to revise the protocols for the perioperative care of this specific population. Surgical patients with intellectual disability are at increased risk of postoperative pneumonia, sepsis, and 30-day mortality. Intellectual disability is associated with higher medical expenditure and increased length of stay in hospital after surgical procedures. The influence of intellectual disability on postoperative outcomes is consistent in both sexes and those aged 10 to 17 years. Low income and a history of fractures significantly impacts postoperative adverse events for patients with intellectual disability.

Application of the ECLECTIC Framework on a Pediatric Case

Abstract Objective The ECLECTIC Framework (Fujii, 2018) provides seven components that are pertinent for understanding culturally diverse cases. Education and literacy, Culture and acculturation, Language, Economics, Communication, Testing situation, Intelligence conceptualization, and Context of immigration may impact neuropsychological test performance. Presented within this pediatric case study are examples of common difficulties encountered in conducting evaluations with ethnic and linguistic minorities, as well as considerations to increase equity and validity throughout the evaluation process. Case Description Maria is a 10-year-old, Spanish speaking female who moved from Cuba to the United States in November 2017. Maria relocated with her mother, who was pregnant at the time, and the family lives with Maria’s maternal great aunt. Per evaluations completed in Cuba, Maria has a history of intellectual disability, scoliosis, and untreated seizures. Although not documented, Maria’s mother reported that Maria has a prior diagnosis of “mild autism” made in Cuba. Maria receives special education services in the United States and previously received services in Cuba. Home language and academic instruction are in Spanish. Diagnostic Impressions and Outcomes Cognitive abilities are severely impaired and similar to those of a child between the ages of 2 and 4, with social skills showing more delay. Diagnosis of Autism Spectrum Disorder, with accompanying intellectual (Intellectual Disability, Severe) and language impairments is confirmed. A family history of intellectual deficits due to a genetic condition was reported. Consultations with both Neurology and Genetics/Dysmorphology services are highly recommended to understand the etiology of Maria’s significant and globally diffused impairments. Discussion For pediatric cases, the ECLECTIC Framework requires the components to consider the child in the context of their family and the intersectionality between parent and child. References Fujii, D. E. (2018) Developing a cultural context for conducting a neuropsychological evaluation with a culturally diverse client: The ECLECTIC framework. The Clinical Neuropsychologist, 32(8), 1356-1392, DOI: 10.1080/13854046.2018.1435826.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

BackgroundNiemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI) was developed to overcome this problem. Identifying preclinical cases is important for prevention and therapy. Here, we report three newly diagnosed NPC cases, one typical juvenile-onset case and the cases of two sisters with symptoms neurologically/psychiatrically indistinguishable from dystonia and schizophrenia, respectively.Case presentationIn Case 1, a 25-year-old man presented with a 14-year history of intellectual disability, clumsiness, spastic ataxia, dysphagia, and frequent falls. Neurological examination revealed vertical supranuclear gaze palsy and involuntary movements. Ultrasonography revealed mild splenomegaly, and filipin staining of skin fibroblasts was positive with a variant staining pattern. NPC1 gene analysis showed compound heterozygous mutations, including c.1421C > T (p.P474L), a known causative mutation, and c.3722 T > C (p.L1241S), a new mutation. In Case 2, a 28-year-old woman, the proband, who had marked splenomegaly in her childhood, survived well, contrary to the expected severe prognosis of infantile NPC. She had minor neuropsychiatric symptoms including auditory hallucinations, nocturnal urination, and sleep paralysis. At the age of 28 years, she presented with a 1-year history of orofacial and oromandibular painful dystonia. The patient’s 35-year-old sister (Case 3) was diagnosed with schizophrenia. In both cases, filipin staining of skin fibroblasts was positive with variant staining patterns, as well as elevated levels of urinary bile acids. NPC1 gene analysis showed compound heterozygous mutations including c.3011C > T (p.S1004 L), a known causative mutation, and c.160_161insG (p.D54GfsX4), a new mutation. Their mother, who was under therapy with modafinil for narcolepsy, shared the latter mutation.ConclusionsMarked clinical variability was observed in our three cases. NPC could masquerade as a pure neuropsychiatric disorder such as dystonia or schizophrenia. Abdominal ultrasonography, history evaluation, and neurological examination were quite important in the diagnostic process.

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

ObjectiveTo describe the cause of death together with emergency department presentations and hospital admissions in the last year of life of people with intellectual disability.MethodA retrospective matched cohort study using...

A case of tuberous sclerosis presented with profound intellectual disability, intractable seizure, suspected abuse and Pica

Background: Tuberous sclerosis complex is a neurocutaneous syndrome inherited as autosomal dominant manner. It presents with CNS, dermatological manifestations and other systemic involvement. Methods: A case of male adolescent of 13 years age who presented in tertiary care OPD with strong family history of intellectual disability. The history obtained from his parents and necssary investigation work up has been done. A multidisciplinary team examined the patient and some unique features has been obtained. Results: The uniqueness of the case is it presents with profound intellectual disability, there is difficult to treat epilepsy due to combination of complex partial seizure with secondary generalization and myoclonus, eating disorder in the form of pica has been noted, spreading leg infection raises the possibility of child abuse and neglect. Conclusions: The appropriate treatment approach lies in judicious history taking. Parental counseling, the safety of patient should get the priority. Medical management should be combined with behavioural therapy, parental therapy and psychosocial rehabilitation. Genetic testing is necessary and multidisciplinary approach is required by a team comprising of but not limited to psychiatrists, clinical psychologist, special educator, pediatrician, physician, surgeons, dermatologist and ophthalmologist.

Streamlining NGS Workflows Using Cancer Samples by the Application of Tthe DNA Integrity Number (DIN) from the Genomic DNA Screentape Assay

Streamlining NGS Workflows Using Cancer Samples by the Application of Tthe DNA Integrity Number (DIN) from the Genomic DNA Screentape Assay

A 15-Year-Old Boy With Snoring and Molar Tooth Sign

A 15-year-old boy presented for evaluation of snoring and sleep-disordered breathing. The parents noted that the patient snored every night and that he had episodes when he stopped breathing, ending with gasping for air. He had no history of sleep walking, night terrors, tongue biting, or seizures. The patient had two healthy siblings, but he had a history of intellectual disability and developmental delay. The patient had a history of adenotonsillectomy.

Misdiagnosis of African-Americans with Psychiatric Issues – Part I

This article highlights issues of misdiagnosis in an African-American, adult clinical population by doing point prevalence, record review study within a comprehensive community mental health center. Psychiatric evaluations of 330 patients were reviewed and clinically identifiable variables of: a) childhood Intellectual Disability (ID), special education, Attention Deficit Hyperactive Disorder (ADHD), or Autism/Pervasive Developmental Disorder (PDD); b) head injury causing Organic Brain Syndrome (OBS) or Temporal Lobe Epilepsy (TLE); c) a history of chronic substance abuse prior to the development of psychiatric symptoms; or d) childhood trauma causing Anxiety, Depression, and Panic Disorders were tabulated. Two hundred and twenty patients, who were free of the four variables, had a single psychiatric diagnosis and 18 had multiple co-morbid diagnoses. More than 25% (92/330) of the patients had the four variables in their histories. Four of the 92 patients had more than one variable in their history. Of the remaining 88 cases, 42 had psychiatric issues beginning in childhood (28 had history of ID, 4 had history of learning disabilities, 3 had history of ADHD, 7 had histories of Autism/PDD); 9 had histories of OBS or TLE; 20 had histories of substance abuse; and 18 had histories of extensive childhood trauma). Careful attention to common issues in African-Americans can inform the psychiatric diagnostic process pointing to prevention or treatment considerations that would benefit the African-American community at large.

Intellectual disability in India: Charity to right based.

Byline: B. Chavan, Abhijit. Rozatkar According to the Census 2001, [sup][1] there are 21 million people with disabilities in India who constitute 2.13% of the total population. In contrast, the National Sample Survey Organization (NSSO) estimated that the number of persons with disabilities in India is 1.8% of the Indian population; [sup][2] of which 75% of persons with disabilities live in rural areas, 49% of them are literate and only 34% are employed. Both the surveys included the persons with visual, hearing, speech, locomotor, and mental disabilities, but the distribution in each category according to the two surveys differs drastically. However, experts working in the field of developmental disabilities feel that prevalence of mental disability is much higher. [sup][3] Intellectual disability (ID) is characterized by significant impairment in cognitive and adaptive behavior. The term used to describe this condition has gone under constant change over the years due to social and political compulsions. The main reason to search for a new term is to find a least stigmatizing terminology. Thus, mental retardation, which was in use world over till late 20 [sup]th century, has now been replaced with ID in most English speaking countries. Diagnostic and Statistical Manual 5 [sup]th Revision (DSM-V) has replaced it with ID and the much anticipated 11 [sup]th revision of International Classification of Disease is likely to do so. [sup][4],[5] The history of ID has passed through a very turbulent phase and can be briefly summarized under: i) Pre-industrialization phase: From the dawn of civilization to the beginning of industrialization period, people born with "abnormal" physiognomy were treated with fear or ridicule (and perhaps continue to do so in many societies). ii) Industrialization phase: Although industrial revolution is associated with increasing wealth and productivity, it also brought in many ill effects. Migration to bigger cities led to development of slums, poverty, diseases, and crimes. Families started valuing those with vocational ability and started neglecting members who were not able to work. The individual who had low intelligence were left out and were labeled as feeble-minded, degrading, and stigmatizing. iii) Humanitarian approach: In 1846, Dr Samuel Gridley Howe from Boston persuaded Massachusetts Legislature to appoint a commission to inquire into the condition of 'idiots'. After survey and close study, he for the first time observed, "These are the proper subjects of education, they can be taught to do some kind of labor and they can be made self-sufficient". [sup][6] It led to many state run schools for these persons. However, these schools were a failure because Howe and his fellows (Sequin and Wilbur) were too optimistic, unrealistic in expectations as they expected to restore all 'idiots' to normal functioning. iv) Demonology of the defectives: The scientific developments of Darwinism, sociological approach, Mendelian theory of genetics, and Binet psychometric tests advocated, directly or indirectly that feeble minded individuals, who could be easily identified and quantified, are risk to the society. Thus, the society started thinking ways to prevent feeble mindedness from occurring and working on ways how to control those in whom it did occur. The segregation seemed to be the best method where feeble minded could be cheaply and wisely cared for along with prevention and societal protection. v) Period of John F Kennedy: In 1963, based on recommendations of President's Panel on Mental Retardation, JF Kennedy made a speech to the Congress of United States and asked for new resources to address the needs for people with mental retardation. Soon, virtually every state launched special educational programs for these persons. [sup][6] Currently, the term ID is being used instead of mental retardation. This transition in terminology is supported by organization like the American Association on Intellectual and Developmental Disabilities (AAIDD), International Association for the Scientific Study of Intellectual Disabilities (IASSID), and President's Committee for People with Intellectual Disabilities. …

Social, Environmental and Biological Determinants of Cerebral Palsy in Children with Intellectual Disabilities (ID) in India

Background Cerebral palsy (CP) is a global public health problem affecting 2.12 to 2.45 per 1000 live birth across the world. Cerebral palsy is an upper motor neuron, non-progressive disorder commonly associated with intellectual disability. The presence of cerebral palsy effects person’s overall life. Objectives This study primarily sought predictive capacity of social, environmental and biological determinants of CP in ID. Materials and Methods This is a cross-sectional study design. A total of 262 children, aged 3 to 18 years, with ID were assessed for cerebral palsy and diagnosed on basis of clinical examination in a community based rehabilitation project in Barwani, India. Information was collected by parent interviews, on social, environmental and biological determinants. A logistic regression model has been applied between determinants and CP. Results Logistic regression demonstrated that likelihood of CP in ID children can be predicted on bases of their age (odd ratio = 0.856, CI 95% - 0.76-0.95), intelligence quotients (IQ) (odd ratio = 0.782, CI 95% - 0.73-0.83) and family history of intellectual disabilities (odd ratio = 0.051, CI 95% - 2.36 -0.99) and epilepsy (odd ratio = 0.008, CI 95% - 2.58-1.28). Comorbid conditions of downs syndrome and epilepsy also predicts likelihood of CP in ID. Conclusion Likelihood of CP in ID children can be predicted by their age, IQ, family history of intellectual disability, epilepsy and comorbid conditions of downs syndrome and epilepsy. Gender, socio-economic status and population (tribal versus non-tribal) determinants have no predictive relation with CP in the group. DOI: http://dx.doi.org/10.3126/nje.v3i3.9187 Nepal Journal of Epidemiology 2013;3(3): 262-268

Prevalence and characteristics of children with mild intellectual disability in aFrench county

Studies conducted on mild intellectual disability (MID) in children are infrequent and the prevalence rates vary widely. This study aimed to estimate the prevalence of MID in children in a French county (Isère), to describe the clinical signs and associated comorbidities, and to specify the aetiologies of this disability. The target population was comprised of the 15 100 children born in 1997 residing in Isère County, France, in 2008. Our goal was to find the children in this group with MID diagnosed between 9 and 13 years of age. MID was defined as an overall IQ score of between 50 and 69 [International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10)]; this definition was adjusted for the study by integrating confidence intervals so that the risk of IQ measurement relativity and possible discrepancy of scores could be taken into account. Children were identified through an administrative data source designed to assist disabled persons that contains health information, and an educational data source. Parents who agreed to let their children participate responded to an in-depth questionnaire on their child's medical and academic history. A genetic investigation was proposed for those children whose MID had an unknown aetiology. The preliminary selection included 267 children, resulting in a prevalence rate of 18 per 1000 (CI [15.6; 19.9]), within the expected mean. Of these 267 cases, 181 families agreed to participate in the study (68%). MID more often affected boys [male gender ratio = 1.4 (CI [1.2; 1.6])], low socioeconomic groups, and families with a history of intellectual disability. The clinical signs and comorbidities associated with MID were very frequent, with 54% spoken language disorders and 10% pervasive developmental disorder. Only 9% of the children had undergone a genetic investigation before the study. The known aetiology rate for MID was 19% among all the children who had had genetic tests performed. MID is an important public health issue based on its prevalence. The associated clinical signs and comorbidities may be warning signs of MID in case of learning difficulties. This study may help decision-makers to develop and organise screening and care for MID.

The changing of the guard

This paper considers the impact of service systems on group activities. It describes an inter-professional groupwork project facilitated by a social worker and a community nurse. The project provided an emancipatory experience for a group of adults who had intellectual disabilities. The group was charged with the task of reviewing and updating the recruitment and interview processes used by a ‘Learning Disability Partnership Board’, when employing new support workers.The paper begins with a brief history of intellectual disability and provides a context to the underpinning philosophical belief that people should be encouraged and supported to inhabit valued social roles no matter what disability they may have. It then identifies the ways in which the sponsoring health, education and social care services impacted on the creation and development of a groupwork project. It might have been expected that the nature of the intellectual disability would have been the major influence on group process. However the paper reveals that organisational constraints had a significant impact on group functioning. Issues including, staffing budgets and transport contracts impacted on group process and function.The results of the project show how, with adequate support, people with intellectual disability can make important decisions that have long-reaching impacts on the services.

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

BackgroundCryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH) method.ResultsAmong the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%.ConclusionThis is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.

History from the inside: towards an inclusive history of intellectual disability

This paper reviews the place of the ‘voice’ in the history of intellectual disability, drawing principally on developments in the UK, but also making reference to comparative developments in other countries. Various approaches have been used by research historians to collect and represent the voices of those involved in this history; including biographical reconstruction, oral history, institutional histories and life histories. In response to the challenge, ‘Nothing About Us Without Us’ the slogan of the disabled people's movement, the paper argues for the careful use of oral and biographical accounts to augment histories told through official sources and examines some of the methodological challenges associated with such approaches. However, the argument of this paper, ultimately, is in favour of what we are calling ‘inclusive history’, where academic historians and oral/life historians contribute to the development of a <em>shared</em> history of intellectual disability.

Not Strictly Business: Freaks and the Australian Showground World

Freak show performers are popularly portrayed as exploited individuals. This article examines the debate within the history of intellectual disability over freaks, and tests the contested positions against the evidence of freak shows in Australia, 1920 to 1950. It argues that these were not exploitative relations or simply business ones, but complex and nuanced two-way paternalistic relations. Freak performers experienced some power and a sense of belonging to the showground world. They consented or assented to their role in that world.