Degree Of Intellectual Disability Research Articles

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy and intellectual disability. Despite the lack of cases described, it appears that POBINDS could manifest with a wide range of phenotypes, possibly related to the different mutations of CSNK2B. Methods: Our multicentric, retrospective study recruited nine patients with POBINDS, detected using next-generation sequencing panels and whole-exome sequencing. Clinical, laboratory, and neuroimaging data were reported for each patient in order to assess the severity of phenotype, and eventually, a correlation with the type of CSNK2B mutation. Results: We reported nine unrelated patients with heterozygous de novo mutations of the CSNK2B gene. All cases presented epilepsy, and eight patients were associated with a different degree of intellectual disability. Other features detected included endocrinological and vascular abnormalities and dysmorphisms. Genetic analysis revealed six new variants of CSNK2B that have not been reported previously. Conclusion: Although it was not possible to assess a genotype–phenotype correlation in our patients, our research further expands the phenotype spectrum of POBINDS patients, identifying new mutations occurring in the CSNK2B gene.

Acquired mild cognitive impairment in adults with Down syndrome: Age-related prevalence derived from single point assessment data normed by degree of intellectual disability.

BackgroundIndividuals with Down syndrome (DS) are at significant risk for early onset Alzheimer's disease (AD), likely due to the triplication of genes on chromosome 21 that facilitate AD neuropathology. To aid the effective early diagnosis of dementia in DS, we demonstrate the strategy of using single point assessment of cognitive performance with scoring normed for degree of intellectual disability to generate age related prevalence data for acquired mild cognitive impairment (AMCI).MethodsFour hundred and twelve adults with DS were assessed using the Neuropsychological Assessment of dementia in adults with Intellectual Disability. Normative data, banded by degree of intellectual disability, allowed identification of AMCI by atypical deviation from expected performance.ResultsAMCI was evident in approximately 20% of adults with DS aged 40 and under, 40% aged 41–50 and 45% aged 51 and over. Relative risk increased significantly in those aged 46 and over. Analysis of prevalence by 5‐year age bands revealed two peaks for higher prevalence of AMCI.ConclusionsPsychometric data indicate single point assessment of AMCI is possible for the majority of adults with DS. Two peaks for age‐related prevalence of AMCI suggest the risk for onset of AD conferred by trisomy of chromosome 21 is moderated by another factor, possibly ApoE status.

Development of treatments for Down syndrome

Down syndrome is caused by an extra copy (or, rarely, an extra segment) of chromosome 21. The phenotype of Down syndrome is variable, but common to all individuals with the syndrome is some degree of intellectual disability. 1 Antonarakis SE Skotko BG Rafii MS et al. Down syndrome. Nat Rev Dis Primers. 2020; 6: 9 Crossref PubMed Scopus (92) Google Scholar Alzheimer's disease pathology is seen both at autopsy and by amyloid PET in all adults with Down syndrome by the age of 40 years, putting this population at especially high risk of developing early-onset Alzheimer's disease. However, there are no pharmacological treatments for either intellectual disability or Alzheimer's disease in people with Down syndrome. Safety, efficacy, and tolerability of memantine for cognitive and adaptive outcome measures in adolescents and young adults with Down syndrome: a randomised, double-blind, placebo-controlled phase 2 trialMemantine was well tolerated, but cognition-enhancing effects were not recorded with a 20 mg/day dose in adolescents and young adults with Down syndrome. Exploratory analyses point to a need for future work. Full-Text PDF

The Identification of Sialuria with Different Degrees of Intellectual Disabilities in Children and Adolescents

Background: Single nucleotide polymorphism/mutation in the R263L region of the allosteric site of the GNE gene produces a phenotype with an overproduction of intracellular levels of sialic acid and causes sialuria. In sialuria, a defective GNE gene, synthesized with lost feedback inhibition mechanism, produces many developmental delays and varying degrees of intellectual disabilities in children and adolescents. Several mutations in the epimerase and kinase domains exist that cause difficulty in getting a precise and exact effect of the GNE gene on the disease severity and sialic acid levels. This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/ adolescents.
 Methodology: The current study quantified the mRNA expression of the GNE gene and urinary sialic acid concentration by Realtime-qRT-PCR and Fluorimetric assays, respectively. The correlation between relative mRNA and urinary sialic acid levels was evaluated by using Pearson Bivariate correlations.
 Results: The data show that severely intellectually disabled (I.D.) patients showed significantly reduced mRNA expression levels of the GNE gene compared to controls. The concentrations of free sialic acid in urine were significantly reduced in severe I.D. patients compared to controls. Whereas patients with mild I.D. showed a two-fold increase in sialic acid levels when compared to controls. A significant correlation was found between an increased GNE mRNA and low urinary sialic acid levels from severe I.D. patients.
 Conclusion: The effect of the GNE gene is beyond hyposialylation that could hinder N-glycan structure and sialic acid biosynthesis. The study highlighted the possible involvement of sialic acid levels with different degrees of intellectual disabilities in Pakistani children and adolescents.

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients. Electrophysiological measurements were used to determine the functional consequence of the seven missense δ subunit variants in receptor combinations of α1β3δ and α4β2δ GABAA receptors. This was accompanied by analysis of electroclinical phenotypes of the affected individuals. We determined that five of the seven variants caused altered function of the resulting α1β3δ and α4β2δ GABAA receptors. Surprisingly, four of the five variants led to gain-of-function effects, whereas one led to a loss-of-function effect. The stark differences between the gain-of-function and loss-of function effects were mirrored by the clinical phenotypes. Six patients with gain-of-function variants shared common phenotypes: neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. The EEG showed qualitative analogies among the different gain-of-function variant carriers consisting of focal slowing in the occipital regions often preceding irregular generalized epileptiform discharges, with frontal predominance. In contrast, the one patient carrying a loss-of-function variant had normal intelligence and no seizure history, but has a diagnosis of autism spectrum disorder and suffers from elevated internalizing psychiatric symptoms. We hypothesize that increase in tonic GABA-evoked current levels mediated by δ-containing extrasynaptic GABAA receptors lead to abnormal neurotransmission, which represent a novel mechanism for severe neurodevelopmental disorders. In support of this, the electroclinical findings for the gain-of-function GABRD variants resemble the phenotypic spectrum reported in patients with missense SLC6A1 (GABA uptake transporter) variants. This also indicates that the phenomenon of extrasynaptic receptor overactivity is observed in a broader range of patients with neurodevelopmental disorders, because SLC6A1 loss-of-function variants also lead to overactive extrasynaptic δ-containing GABAA receptors. These findings have implications when selecting potential treatment options, as a substantial portion of available antiseizure medication act by enhancing GABAergic function either directly or indirectly, which could exacerbate symptoms in patients with gain-of-function GABRD variants.

Maintenance Electroconvulsive Therapy Is an Essential Medical Treatment for Patients With Catatonia: A COVID-19 Related Experience.

Aim: Describe naturalistic clinical course over 14 weeks in a mixed adolescent and a young-adult patient group diagnosed with developmental delays and catatonia, when the frequency of maintenance electroconvulsive therapy (M-ECT) was reduced secondary to 2020 COVID-19 pandemic restrictions.Methods: Participants were diagnosed with catatonia, and were receiving care in a specialized clinic. They (n = 9), F = 5, and M = 4, ranged in age from 16 to 21 years; ECT frequency was reduced at end of March 2020 due to institutional restrictions. Two parents/caregivers elected to discontinue ECT due to concern for COVID-19 transmission. Majority (n = 8) were developmentally delayed with some degree of intellectual disability (ID). Observable symptoms were rated on a three point scale during virtual visits.Results: All cases experienced clinically significant decline. Worsening of motor symptoms (agitation, aggression, slowness, repetitive self-injury, stereotypies, speech deficits) emerged within the first 3 weeks, persisted over the 14 week observation period and were more frequent than neurovegetative symptoms (appetite, incontinence, sleep). Four participants deteriorated requiring rehospitalization, and 2 among these 4 needed a gastrostomy feeding tube.Conclusion: Moderate and severe symptoms became apparent in all 9 cases during the observation period; medication adjustments were ineffective; resuming M-ECT at each participant's baseline schedule, usually by week 7, resulted in progressive improvement in some cases but the improvement was insufficient to prevent re-hospitalization in 4 cases. In summary, rapid deterioration was noted when M-ECT was acutely reduced in the setting of COVID-19 related restrictions.

What We Should Not Forget about Down Syndrome

Down syndrome is the foremost common genetic cause of intellectual disability. The additional copy of chromosome 21 confers potential changes in virtually all organ systems, including the brain, neck structures, and spine. Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome. In particular, the high prevalence of age-related cognitive decline and dementia stands out more clearly in recent decades due to the notable increase in these individuals' survival. Although the early and timely diagnosis of cognitive decline in patients with varying degrees of intellectual disability has not been an easy task from the clinical point of view, anatomic and functional brain studies have shown an essential role because they allow the early recognition of abnormalities that precede the cognitive decline. Furthermore, the similarities and differences in neuropathologic, genetic, and imaging aspects in patients with Down syndrome have allowed extrapolation for a better understanding of the mechanisms linked to Alzheimer disease development.Learning Objective: To review and systematize the distinctive characteristics and abnormalities of the head and neck, vertebral column, and CNS present in Down syndrome

Calidad de vida en población pediátrica entre los 7 a 11 años con discapacidad intelectual. Barranquilla 2017–2018.

Antecedentes: La discapacidad intelectual, se presenta en aproximadamente el 3 % de la población mundial, aumentando en la población infantil hasta en un 10 %. La discapacidad intelectual requiere intervención interdisciplinaria en diferentes áreas profesionales, los servicios médicos, psicológicos y educativos. El conocimiento sobre la calidad de vida en estos pacientes es la piedra angular en la revisión de protocolos, las recomendaciones y en la toma de decisiones para enfocar las medidas tendientes a mejorar su la calidad de vida. Objetivo: evaluar la calidad de vida en niños entre los 7 a 11 años con discapacidad intelectual. Barranquilla, periodo 2017 - 2018. Métodos: Estudio descriptivo, prospectivo con aplicación de encuesta. Pacientes entre los 7 a 11 años con diagnóstico de algún grado de discapacidad intelectual, en seguimiento por neuropediatría. Se aplicó la Escala KidsLife, diseñada y validada para evaluación de calidad de vida en niños y adolescentes con discapacidad intelectual. Resultados: El sexo masculino alcanzó la mayor frecuencia de la población con el 61 %. Edad media de 9.2 ± 1.4 años. El 50 % presentaban discapacidad intelectual leve, la distribución por dimensiones evidenció que para la inclusión social el 69 % presentaban percentil < 50 en la autodeterminación. El 51 % en el percentil ≥ 50, en bienestar emocional, mientras que el 54 % en el percentil ≥ 50. Conclusiones: El índice de calidad de vida en niños entre los 7 a 11 años con discapacidad intelectual presenta percentiles menores a 50 en el 37 % de los casos, lo que demuestra una percepción de calidad de vida con algún grado de deficiencia, denotándose especialmente en las dimensiones de autodeterminación, relaciones interpersonales, bienestar físico y desarrollo personal.

Sexuality, Masculinity, and Intellectual Disability

The intersection of sexuality, masculinity, and intellectual disability remains underresearched and only partially theorized. What has been studied identifies that, for these men and boys, the expression and embodiment of their male gendered identity is controlled, to a varying extent, by others. This article unpacks key issues related to identity and intellectual disability, and then describes two ideas. First, the concept of the “conditionally masculine” will be explored. This concept proposes that greater degrees of intellectual disability can change one’s perceived or actual gendered identity. Second, the theoretical model entitled “doing intellectual disability boys to men” explores how boys with intellectual disability aspire to be like other boys, yet this embodiment and the hopes and dreams they build are sometimes realized vicariously.

Adapting photovoice to explore identity expression amongst people with intellectual disabilities who have limited or no verbal communication

Accessible Summary People with intellectual disabilities who have limited, or no verbal communication can be involved in research. Ethnographic observations and interview techniques can work together with photovoice. More research needs to be completed directly involving people with intellectual disabilities. AbstractBackgroundInclusive research requires adapting methodologies to meet the needs of people with all degrees of intellectual disabilities. However, it must also balance this with the requirements of academic research. Building from previous research a study was completed to illustrate how photovoice could not only be adapted to meet the needs of people with intellectual disabilities who have limited or no verbal communication but to also explore how they express their identity.MethodsA qualitative multiple case study method was used to explore identity expression amongst three participants with intellectual disabilities and limited or no verbal communication. The methodology integrated ethnographic observations, photovoice and interview techniques.FindingsIntegrating the ethnographic observations, photovoice and interview techniques offered families and carers the opportunity to become curious about participants' identities, and this methodology was considered valuable in getting to know more about the person.ConclusionsIt is hoped that through conducting research that directly involves people with intellectual disabilities, more creative and inclusive methods can be explored, verified and applied across various research contexts.

Rethinking Intellectual Disability from Neuro- to Astro-Pathology.

Neurodevelopmental disorders arise from genetic and/or from environmental factors and are characterized by different degrees of intellectual disability. The mechanisms that govern important processes sustaining learning and memory, which are severely affected in intellectual disability, have classically been thought to be exclusively under neuronal control. However, this vision has recently evolved into a more integrative conception in which astroglia, rather than just acting as metabolic supply and structural anchoring for neurons, interact at distinct levels modulating neuronal communication and possibly also cognitive processes. Recently, genetic tools have made it possible to specifically manipulate astrocyte activity unraveling novel functions that involve astrocytes in memory function in the healthy brain. However, astrocyte manipulation has also underscored potential mechanisms by which dysfunctional astrocytes could contribute to memory deficits in several neurodevelopmental disorders revealing new pathogenic mechanisms in intellectual disability. Here, we review the current knowledge about astrocyte dysfunction that might contribute to learning and memory impairment in neurodevelopmental disorders, with special focus on Fragile X syndrome and Down syndrome.

Participation in sport and physical activity in adults with intellectual disabilities

People with intellectual disability face a number of barriers to participation in physical activity. This paper aimed to determine rates of sport and physical activity participation in an Australian sample of adults with intellectual disability, compared with rates of participation in the general Australian population. A secondary aim was to investigate factors that may contribute to participation of adults with intellectual disability. Participants were part of the Australian Child to Adult Development (ACAD) study, consisting of a community sample with intellectual disability (n=305), groups of adults with autism (n=94), Down syndrome (n=64), fragile X syndrome (n=52), Williams syndrome (n=45), and Prader-Willi syndrome (n=30). Participation in sport/physical activity was reported over the past 3months. Rates of participation were reported for adults with intellectual disability and compared with rates in a general Australian population sample. The relationship between participation in physical activity and age, degree of intellectual disability, physical mobility, living situation, socio-economic disadvantage, and behaviour and emotional problems were also conducted. Participants in the ACAD community sample with intellectual disability participated in sport/physical activity at lower rates than the general Australian population (42% compared with 71%). Having no physical mobility impairment was significantly associated with higher rates of participation. Those with Down syndrome participated in sport/physical activity at higher rates than the community sample with intellectual disability, while no difference in sport/physical activity participation was observed in the groups with autism or other syndromes. Australian adults with intellectual disability participate in sport and physical activity at lower rates than the general population. Having a physical mobility impairment was associated with lower rates of participation. However, people living in supported accommodation were more likely to participate than those in other living situations. Having Down syndrome was associated with a higher participation rate than the community sample.

Psychopathology of mental and behavioral disorders in people with intellectual disability

Introduction.Mental and behavioral disorders often coexist in people with intellectual disabilities. The prevalence of mental and behavioral disorders in people with intellectual disability, compared to people with the intellectual norm, differ in the form of manifestation of the symptoms of a given disorder depending on the degree of intellectual disability. Psychopathological and behavioral disorders are often mistakenly captured as a result of intellectual disability itself. Therefore, the correct diagnosis of people with mental retardation is an increasing value.Aim.The aim of this article is to present the issues of mental and behavioral disorders in the population of people with intellectual disabilities. Presentation of the symptomatology of these disorders and the subject of therapy in order to improve the functioning of people with intellectual disabilities.Summary.People with intellectual disabilities show a greater risk of developing mental and behavioral disorders. To date, no uniform diagnostic criteria have been established that would allow for a more accurate medical diagnosis. Increasing the knowledge of the functioning of people with intellectual disabilities who show mental disorders and the correct diagnosis would allow to increase the effectiveness of undertaken therapeutic tasks and improve the quality of life of people with mental disabilities.

Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer\u2019s disease-related inhibitory circuit dysfunction in adults with Down syndrome

BackgroundAlzheimer’s disease (AD) is the major cause of death in adults with Down syndrome (DS). There is an urgent need for objective markers of AD in the DS population to improve early diagnosis and monitor disease progression. NPTX2 has recently emerged as a promising cerebrospinal fluid (CSF) biomarker of Alzheimer-related inhibitory circuit dysfunction in sporadic AD patients. The objective of this study was to evaluate NPTX2 in the CSF of adults with DS and to explore the relationship of NPTX2 to CSF levels of the PV interneuron receptor, GluA4, and existing AD biomarkers (CSF and neuroimaging).MethodsThis is a cross-sectional, retrospective study of adults with DS with asymptomatic AD (aDS, n = 49), prodromal AD (pDS, n = 18) and AD dementia (dDS, n = 27). Non-trisomic controls (n = 34) and patients with sporadic AD dementia (sAD, n = 40) were included for comparison. We compared group differences in CSF NPTX2 according to clinical diagnosis and degree of intellectual disability. We determined the relationship of CSF NPTX2 levels to age, cognitive performance (CAMCOG, free and cued selective reminding, semantic verbal fluency), CSF levels of a PV-interneuron marker (GluA4) and core AD biomarkers; CSF Aβ1–42, CSF t-tau, cortical atrophy (magnetic resonance imaging) and glucose metabolism ([18F]-fluorodeoxyglucose positron emission tomography).ResultsCompared to controls, mean CSF NPTX2 levels were lower in DS at all AD stages; aDS (0.6-fold, adj.p < 0.0001), pDS (0.5-fold, adj.p < 0.0001) and dDS (0.3-fold, adj.p < 0.0001). This reduction was similar to that observed in sporadic AD (0.5-fold, adj.p < 0.0001). CSF NPTX2 levels were not associated with age (p = 0.6), intellectual disability (p = 0.7) or cognitive performance (all p > 0.07). Low CSF NPTX2 levels were associated with low GluA4 in all clinical groups; controls (r2 = 0.2, p = 0.003), adults with DS (r2 = 0.4, p < 0.0001) and sporadic AD (r2 = 0.4, p < 0.0001). In adults with DS, low CSF NPTX2 levels were associated with low CSF Aβ1–42 (r2 > 0.3, p < 0.006), low CSF t-tau (r2 > 0.3, p < 0.001), increased cortical atrophy (p < 0.05) and reduced glucose metabolism (p < 0.05).ConclusionsLow levels of CSF NPTX2, a protein implicated in inhibitory circuit function, is common to sporadic and genetic forms of AD. CSF NPTX2 represents a promising CSF surrogate marker of early AD-related changes in adults with DS.

Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making.

Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making.

Effects of Expressive Arts-Based Interventions on Adults With Intellectual Disabilities: A Stratified Randomized Controlled Trial.

BackgroundPeople with intellectual disabilities have difficulties expressing their views and can manifest psychological and behavioral symptoms. The present study aimed to examine the effects of expressive arts–based intervention (EABI) on the behavioral and emotional well-being of adults with intellectual disabilities.MethodsThis study assigned 109 Chinese adults with intellectual disabilities into EABI (N = 55) or control groups (N = 54) using stratified randomization. Pre- and post-intervention quantitative assessments were conducted of aberrant behaviors, personal well-being, mood and color usage in drawings. Focus group interviews were conducted with the EABI participants and their caseworkers at the post-intervention stage. Repeated-measures analysis of covariance evaluated the EABI effects with age, gender and degree of intellectual disability as covariates, and latent profile analysis examined the patterns of color usage in drawings. Qualitative thematic analysis was performed on the interview data.ResultsThe interview findings suggest that the EABI group was more emotionally expressive and stable after the intervention. Compared to the control group, the EABI group tended to use more diverse colors and leave less empty space in their drawings. No significant overall improvements were found in the EABI group with respect to aberrant behaviors, mood or personal well-being. Among males, the EABI participants showed significantly more anger and less energetic moods than those in the control group. Among females, the EABI participants showed significantly lower levels of aberrant behavior than those in the control group.ConclusionThe results of this study suggest that expressive arts–based interventions have different effects on the emotional and behavioral well-being of male and female participants. Moreover, increased color usage may imply a more positive state of emotional well-being.

Impact of childhood Dravet syndrome on care givers of patients with DS, a major impact on mothers

BackgroundThe aim of this study was to understand the impact of Dravet syndrome (DS) on patients with Dravet syndrome and their families, with a focus on the social and economic impact on both mothers and fathers. MethodsA French language on-line survey was distributed (October 2014–January 2015) for completion by caregivers of patients aged <18 years with DS. The survey was hosted on the French Dravet Syndrome Alliance website, and the survey link was provided to patients and caregivers during clinics at the Necker Hospital (Paris, France). ResultsSurvey responses were available for 91 patients (median age 7.6 years; 81.6% SCN1A mutation positive). Total seizure frequency was >2 per week for 16.1% of patients, 1–8 per month for 55.2% and < 1 per month for 28.7%; tonic–clonic and myoclonic were the most frequent seizure types. Patients showed various degrees of intellectual disability and DS had a high impact on concentration and school learning in 70.1% and 80.5%. In addition, patients showed appetite disorders in 73.6%, sleep disorders in 72.4% and behavior disorders in 62.1%.Most parents were married (80.5%) with higher rates than the French general population (53.5%). Educational achievement and socio-professional categories for the parents were higher than observed in the French general population, while monthly net income was similar. Preparation of medication was generally done by the mother and father (46.0% of patients) or the mother only (37.9%). Most caregivers reported very low or no difficulty with treatment preparation and low or no risk of error. Parents typically spent <30 min per day on treatment preparation and administration and around 4 h per week for attending therapy appointments. Although most patients and parents were perceived to have good general health, mothers had a worse perception of their own general health than fathers. Compared with fathers, mothers reported a greater impact of caring for a child with DS on their social life, relationships with family and friends, time and energy, and professional life. ConclusionFamilies caring for a child with DS experience considerable social and economic impact, with an apparent greater burden of care on the mother than the father.

A clinical primer on intellectual disability.

Between 1% and 3% of persons in general population are estimated to have some degree of intellectual disability. A diagnosis of intellectual disability is based on clinical history, level of intellectual ability and level of adaptive function. Both, the intellectual and adaptive functioning are measured using individually administered standardized tests. More than 75% of persons who have intellectual disability have mild intellectual disability and an underlying specific etiology is less likely to be identified; whereas, in a small percentage of persons with severe intellectual disability, an underlying specific biologic cause is highly likely to be identified. Genetic abnormalities, inborn errors of metabolism and brain malformations are major categories of causes identified in severe to profound intellectual disability. The initial clinical presentation and recognition depends on the severity and underlying cause of intellectual disability. The etiology, severity, cognitive abilities, and adaptive function, vary among persons with intellectual disability and need consideration in developing a treatment plan. The physician plays an essential role in the evaluation, treatment of associated medical conditions and preventive care, and in facilitating and coordinating consultative services and community based care.

An Exploratory Study for Assessment of Multimodal Semantic Memory in Colombian Children.

.Semantic memory (SM) is a type of long-term memory associated with the storage of general information about the world. Here we assessed the characteristics of the SM battery, developed by Catricalà et al. (2013), in a sample of Colombian children. This battery was originally conceived to evaluate adults, and features six subtests that assess SM in different modalities, using a common set of 48 stimuli in both living and nonliving categories. The design of the current study is of a cross-sectional and exploratory type. The sample was composed of 111 children, 57 boys (51%) and 54 girls (49%), who were 6 (n = 68) and 7 (n = 43) years old and had no intellectual disability. Robust linear regression models and correlation networks were used. We found an effect of age on general intelligence after correcting for gender, and no differences on the six subtest scores after corrections for gender and age were performed. Furthermore, age was found to be positively associated with the naming of colored photographs (β = .75, p = .039), naming in response to an oral description (β = 1.81, p = .039), picture sorting at four levels (β = 7.22, p = .029), and sentence verification (β = 26.66, p = .01). In addition, there were differences between the results obtained in adults in the original study and in the children of our study. This exploratory study supports the feasibility of the Spanish translation of the Catricalà et al. (2013) battery to assess SM in children with a nonclinical condition. Future studies are needed to evaluate the psychometric properties of this SM battery, and to corroborate and expand our findings in a larger sample of control children, and in children with some degree of intellectual disability or suffering of some neurodegenerative or psychiatric conditions.

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.

The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age of 26 years with an unfavorable outcome, while her younger brother presented with hypertrophic cardiomyopathy in a relatively stable state. The two probands shared the same mutation, c.974delTinsAA in exon 8, in the lysosomal-associated membrane protein-2 gene. Of note, the two patients had a pre-excitation pattern in the electrocardiogram on initial presentation and later developed atrial fibrillation (AF), which markedly aggravated heart failure. To the best of our knowledge, AF has not been widely reported in patients with Danon disease. The development of AF may have a prognostic value under these circumstances.