Mental retardation (RM) is defined as by a deficient intellectual capacity as well as by alterations of the adaptive capacity that are externalized in two or more functional areas (Personal autonomy, Communication, Orientation in the environment, Work and Free time).

Present a patient with a severe behavioural disturbance with an associated intellectual deficit, who remained hospitalized for 2 months and after observing an oral alteration her symptoms improved.

A descriptive study of a clinical case

54-year-old woman, single. You have a moderate intellectual disability. In January 2019, she began mental health consultations with a diagnosis of adjustment disorder, on treatment with aripiprazole 5 mg/day, mirtazapine 15 mg/day, lorazepam 0.5 mg/day and dipotassium clorazepate 10 mg/day. Went to the emergency room with mutism, hyporesponsiveness and refuse to intake, having lost 25 kg in 6 months. Abdominal and thoracic CT and upper gastrointestinal endoscopy without significant findings. Consultation with otorhinolaryngology, dermatology, traumatology without significant findings. Odontostomatology consultation: Deep cavities are observed, so it is necessary to carry out extractions of the pieces in poor condition. After this intervention, the patient returns to accept oral intake.

People with intellectual disabilities have a wide range of medical problems that in many cases are directly associated with the underlying disease or syndrome and, in others, with poor physical health due to problems in basic self-care skills or the ability to express verbally. Usually, the first manifestation of pain is an alteration in behaviour, which must be taken into account when making a differential diagnosis.

No significant relationships.

Alert to the high prevalence and familial association between schizophrenia and mental retardation.

Review relevant literature after the description if a clinical case example; additional diagnostic exams.

Description of a clinical case: Man with 25 years old with mental retardation and first episode of pchicosys.

He and his all family works in the fire department. In his family history there is a mother with pchicosys, father with mental retardation, sister with a post partum depression, aunt with bipolar affective disorder, and two uncles who comet suicide.

In January of 2008, he begins to hear voices, in his work, that call him and ask for help; then he begin to see an old lady in his bedroom's window; he stop sleeping and eating. The family brings him to the emergency room and he's started diazepam (15 mg/day) and olanzapina (20 mg/day) and the symptom remit.

Three days later, he stops the medication and the symptoms came back. He gets very scared and begin to take the medication every day.

He did a brain computerized tomography that excludes organic diseases and psychological tests that confirms mental retardation.

It is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation and the co-association between mental retardation and schizophrenia is highly familial. Both bipolar illness and major depressive disorder have also increased prevalence in the mental retarded. The prognosis is directly linked with family and social support.

To point out the proportion of intellectually disabled women (IDW) who are sterilised, and the medical and social factors associated with an increased probability to be sterilised.

A population-based study among 97% of IDW aged 18–46, attending government-accredited institutions in the region of Brussels-Capital and the province of Walloon Brabant (Belgium).

Among the IDW included in this study, 22.2% are sterilised, which is superior to the 7% in the general Belgian population. Factors associated with an increased probability to be sterilised are: living in an institution, having a higher intellectual quotient (IQ), being enrolled in an institution where sexual intercourse is authorised and attending an institution where contraception is required. The last three factors are significant only among women living in institutions and the last two, only in women with severe disability. Among IDW using contraception, no factor was associated with a greater probability to be sterilised.

The prevalence of sterilisation among IDW is three times higher than that in the Belgian population and it is mainly correlated with factors related to the institution where these women live, especially the severely disabled.

Fragile X syndrome is the most common inherited form of X-linked mental retardation. The aim of this study was to screen and identify fragile X syndrome-affected individuals in Tamil Nadu (South India) using DNA-based molecular analysis and chromosomal abnormalities.

Genomic DNA extracted from 47 (29 males and 18 females) individuals with mental retardation, including 47 controls, was analyzed using polymerase chain reaction, DNA gel electrophoresis and sequence analysis. Individuals with mutation were determined according to the CGG repeat size in the FMR1gene on chromosome Xq27.3. At same set of mentally retarded individuals, including controls 3ml of blood were collected in Lithium heparin tubes. The blood samples were incubated in 72 hours under culture conditions and harvested for Gbanding technique and results were guaranteed by SKY techniques.

The sequence analysis shows that the CGG repeat was found in fragile x site which expressed Fragile X syndrome highly when compared to healthy controls. The major Chromosomal aberrations (CA) like deletion, translocation and mosaic were also found. However, when compare with experimental subjects, the controls exhibited low levels of CA (P<0.05).

Results of this investigation suggest that, deregulation of the FMR1 gene might have responsible for fragile X syndrome of mental retardation, and CA among the individuals. Further investigation of this study helps to predicts the causes of this syndrome in molecular level (RNA based FMR1gene – Protein).

Comorbidity between neurodevelopmental disorders and psychotic disorders is common, but little is known about how neurodevelopmental disorders influence the presentation and outcome of first episode psychosis.

A nation-wide cohort (n = 2091) with a first hospitalization for psychosis between 2007–2011 and at ages between 16–25 at intake was identified from Swedish population registries. Comorbid diagnoses of neurodevelopmental disorders were identified at first psychosis hospitalization and for ADHD also by dispensations of psychostimulants before the first psychosis hospitalization.

Data from the registers on hospitalizations and dispensations of antipsychotic and psychostimulant medications during the year before and 2 years after the first psychosis hospitalization were analysed. Self-harm and substance use disorders were identified by ICD10 codes at hospitalizations.

2.5% of the cohort was identified with a diagnosis of intellectual disability, 5.0% with autism and 8.1% with ADHD. A larger proportion of cases with Autism (OR = 1.8, p < 0.05) and intellectual disability (OR = 3.1, p < 0.01) were using antipsychotic medication year 2 compared to the rest of the cohort. Delusional disorder was more common in the autism group (OR = 2.3, p < 0.05) at first psychosis hospitalization. ADHD was associated with higher risks for substance use disorders and self-harm both before and after the first psychosis hospitalization. Year 2 substance use disorder had a OR = 2.6 (p < 0.001) and self-harm OR = 4.1 (p < 0.001).

Psychosis with comorbid ADHD is associated with high risks for substance use disorders and for self-harm, while psychosis with comorbid autism and intellectual disability is associated with longer treatment and higher doses of antipsychotic medication.

To describe the occurrence of psychiatric diagnoses in a specialist care setting in older people with intellectual disability (ID) in relation to those found in the same age group in the general population.

A cohort of people with ID (n = 7936), aged 55 years or more in 2012, was identified, as was an age and sex-matched cohort from the general population (n = 7936). Information regarding psychiatric diagnoses during 2002–2012 was collected from the National Patient Register, which contains records from all inpatient care episodes and outpatient specialist visits in Sweden. The mean age at the start of data collection (i.e. January 1st, 2002) was 53 years (range 44–85 years).

Seventeen per cent (n = 1382) of the people in the ID cohort had at least one psychiatric diagnosis recorded during the study period. The corresponding number in the general population cohort was 10% (n = 817), which translates to an odds ratio (OR) of 1.84. The diagnoses recorded for the largest number of people in the ID cohort were ‘other’ (i.e. not included in any of the diagnostic groups) psychiatric diagnoses (10% of the cohort had at least one such diagnosis recorded) and affective disorders (7%). In the general population cohort, the most common diagnoses were affective disorders (4%) and alcohol/substance-abuse-related disorders (4%). An increased odds of having at least one diagnosis was found for all investigated diagnoses except for alcohol/substance-abuse-related disorders (OR = 0.56). The highest odds for the ID cohort was found for diagnosis of psychotic disorder (OR = 10.4) followed by attention deficit/hyperactive disorder (OR = 3.81), dementia (OR = 2.71), personality disorder (OR = 2.67), affective disorder (OR = 1.74) and anxiety disorder (OR = 1.36). People with ID also had an increased odds of psychiatric diagnoses not included in any of these groups (OR = 8.02). The percentage of people with ID who had at least one diagnosis recorded during the study period decreased from more than 30% among those aged 55–59 years in 2012 (i.e. born 1953–1957) to approximately 20% among those aged 75+ years in 2012 (i.e. born in or before 1937).

Older people with ID seem to be more likely to have psychiatric diagnoses in inpatient or outpatient specialist care than their peers in the general population. If this is an effect of different disorder prevalence, diagnostic difficulties or differences in health care availability remains unknown. More research is needed to understand the diagnostic and treatment challenges of psychiatric disorders in this vulnerable group.

A female adult patient with mild to moderate mental retardation and minor dysmorphisms was referred for neuropsychiatric examination because of psychotic and autistic symptoms and impulsive behaviours.

Standardized neuropsychiatric and neuropsychological assessment as well as detailed somatic and neurological examination was performed. For genetic analysis, karyotyping, whole genome array analysis, and high-resolution detailed analysis of chromosome 21 were carried through.

Karyotyping showed a de novo ring chromosome 21: 46,XX,der(21)r(21)(p11q22.3). High-resolution array analysis demonstrated a complex aberration consisting of an interstitial duplication in 21q21.1, an interstitial deletion in 21q22.2q22.3, an interstitial deletion in 21q22.3 and a terminal deletion of 21q22.3. Apart from mild dysmorphisms, visual and auditory impairments, and infertility, no somatic or neurological abnormalities were found. A formal psychiatric diagnosis could not be established. The behavioural problems and the supposed psychiatric symptoms could be related to her disharmonic social cognitive profile. The behaviour normalized after the patient returned to a stable and structured living environment.

High-resolution micro-array analysis techniques are essential to substantiate the genotype–phenotype correlation in patients with r(21) and other genetic disorders. Moreover, the results of this study stress the importance of the recognition of alexithymia as a potential cause for behavioural problems and psychiatric symptoms in patients with mental retardation in general.

To evaluate the tolerability and efficacy of risperidone in childhood autistic disorder.

A multicenter, open-label, dose-titration study involving seven autistic children (mean age 7.6 years) receiving risperidone for 4 weeks.

Mean dose was 0.01 mg/kg/day on day 1, 0.019 mg/kg/day on day 7 (range 0.01–0.041 mg/kg/day) and 0.035 mg/kg/day on day 28 (range 0.014–0.064 mg/kg/day). Over the 4-week period, the Ritvo–Freeman Real Life Rating Scale total score measuring autistic behavior was significantly decreased (P = 0.019), as was the affectual reactions subscale (P = 0.029). Aberrant Behavior Checklist total score was significantly improved (P < 0.001), as were all subscales except inappropriate speech. Visual Analog Scale for individual target symptoms was significantly decreased (P = 0.001), and Clinical Global Impression severity of illness score was significantly improved (P = 0.006). The incidence of adverse effects was low, and no extrapyramidal symptoms were observed. No significant changes or clinically relevant abnormalities occurred in laboratory tests, vital signs or electrocardiograms. Plasma concentrations of the drug were similar to those in adult patients.

These favorable results suggest that larger controlled trials of risperidone should be performed in autistic or mentally retarded patients with behavioral disturbances.

Personality disorder, mental retardation and aggression are frequently encountered therapeutic problems in epilepsy patients.

This paper gives an overview of symptomatology and treatment of personality disorder, interictal aggression and mental retardation in epilepsy.

Literature review supplemented by clinical experience.

Personality changes in patients with epilepsy are often symptoms of an organic psychosyndrome. Aggression is not more frequent among epilepsy patients than in the general population, but if it does happen it is often more severe. There is a need for controlled treatment studies. A treatment strategy is suggested. In the mentally retarded, diagnostic instruments should be used to overcome diagnostic difficulties.

Prevalence studies based on DSM-IV personality disorder, conducted in the community, are needed, as well as systematic research on diagnosis and treatment of personality disorder in epilepsy patients. Randomized controlled trials (RCTs) considering the effectiveness and adverse effects of antidepressants and neuroleptics in epileptic patients with mental retardation are seriously needed. In the meantime, the Expert Consensus Guideline Series on Treatment of Psychiatric and Behavioural Problems in Mental Retardation is useful. The use of neuroleptics for the treatment of aggressive or destructive behaviour in nonpsychotic mentally retarded patients remains controversial.