Intellectual Deficits Research Articles

Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos

INTRODUCTION: Heterozygous mutations in the SCN1A gene are linked to a wide spectrum of epileptic disorders, ranging from self-limited conditions to epileptic encephalopathies, such as Dravet Syndrome. Seizure control is important to prevent both sudden death and morbidity associated with prolonged seizures. Current evidence suggests that sodium-channel blockers should be avoided. OBJECTIVES: To report on two cases of patients with a mutation in the SCN1A gene associated with Dravet Syndrome, emphasizing the importance of genetic testing for the diagnosis, prognosis, and correct choice of antiepileptic medications. CASE REPORT: Case 1: male patient with onset of seizures at four months old following vaccination. After this, he developed prolonged generalized seizures and, over time, other types of seizures. He also developed a severe intellectual deficit and drug-resistant epilepsy exacerbated by infections and use of sodium-channel blockers. Case 2: female patient with first episode of seizure at 26 days. At 13 months, she developed prolonged generalized crises exacerbated by small temperature variations and euphoria or irritability. Aged two, she had an episode of prolonged status epilepticus. As a result, she developed hypoxic-ischemic encephalopathy and drug-resistant epilepsy. DISCUSSION: The two patients have a mutation in the SCN1A gene associated with Dravet syndrome and their clinical history reveal similar and discrepant points. The most significant contributions of genetic testing are the identification of precipitating factors, greater attention to the possibility of unfavorable evolution, and guidance for choosing anticonvulsants, including avoidance of sodium-channel blockers.

Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells.

Mutations in the Transport and Golgi Organization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy, and cardiac arrhythmias, the latter of which are potentially lethal. While preventing metabolic crises has the potential to reduce mortality, no treatments currently exist for this condition. The function of TANGO2 remains unknown but is suspected to be involved in some aspect of lipid metabolism. Here, we describe a model of TANGO2-related disease in the fruit fly Drosophila melanogaster that recapitulates crucial disease traits. Pairing a new fly model with human cells, we examined the effects of vitamin B5, a coenzyme A (CoA) precursor, on alleviating the cellular and organismal defects associated with TANGO2 deficiency. We demonstrate that vitamin B5 specifically improves multiple defects associated with TANGO2 loss-of-function in Drosophila and rescues membrane trafficking defects in human cells. We also observed a partial rescue of one of the fly defects by vitamin B3, though to a lesser extent than vitamin B5. Our data suggest that a B complex supplement containing vitamin B5/pantothenate may have therapeutic benefits in individuals with TANGO2-deficiency disease. Possible mechanisms for the rescue are discussed that may include restoration of lipid homeostasis.

Thyroid hormone regulators in human cerebral cortex development.

Brain development is critically dependent on the timely supply of thyroid hormones. The thyroid hormone transporters are central to the action of thyroid hormones in the brain, facilitating their passage through the blood-brain barrier. Mutations of the monocarboxylate transporter 8 (MCT8) cause the Allan-Herndon-Dudley syndrome, with altered thyroid hormone concentrations in the blood and profound neurological impairment and intellectual deficit. Mouse disease models have revealed interplay between transport, deiodination, and availability of T3 to receptors in specific cells. However, the mouse models are not satisfactory, given the fundamental differences between the mouse and human brains. The goal of the present work is to review human neocortex development in the context of thyroid pathophysiology. Recent developments in single-cell transcriptomic approaches aimed at the human brain make it possible to profile the expression of thyroid hormone regulators in single-cell RNA-Seq datasets of the developing human neocortex. The data provide novel insights into the specific cellular expression of thyroid hormone transporters, deiodinases, and receptors.

L’introduction du « Sens » en psychiatrie à partir de l’exemple des travaux de Joseph Capgras au sein de la Société Médico-Psychologique

The psychanalytic interpretation by Joseph Capgras and Paul Carrette in 1924 of the second reported case of “look-alike delusion” (later known as Capgras syndrome) paved the way for what was to become the dominant approach for most of the century. Capgras, in spite of the merit he had in isolating the phenomenon within a rich delusional state, had also affirmed the absence in these patients of any intellectual deficit and this even though one of his patients was severely brain damaged. It is currently held that Capgras syndrome can be seen as well in primary psychotic disorders such as in the beginning of certain early dementias. This situation must be exploited in order to further understand the phenomenon.

Associations of Maternal Urinary Arsenic Concentrations during Pregnancy with Infant and Child Mental, Psychomotor, and Cognitive Development: The HOME Study

Background and aims Arsenic exposure during pregnancy may increase the risk for intellectual deficits in children, but limited data exists from prospective epidemiologic studies, particularly at low arsenic exposure levels. We investigated the association between prenatal urinary arsenic concentrations and childhood cognitive abilities in the Health Outcomes and Measures of the Environment (HOME) Study. Methods We used anion exchange chromatography coupled with inductively coupled plasma mass spectrometry detection to measure arsenic species content in pregnant women’s urine. The summation of inorganic arsenic (iAs), monomethylarsonic acid (MMA), and dimethylarsinic acid (DMA) refers to ∑As. We longitudinally assessed children’s cognitive function (n = 260) longitudinally at 1, 2, and 3 years using Bayley Scales of Infant and Toddler Development, at 5 years using Wechsler Preschool and Primary Scale of Intelligence, and at 8 years using Wechsler Intelligence Scale for Children. Results We observed a modest decrease in mental development index and full-scale intelligence quotient at ages 3 and 5 years with each doubling of ∑As (median and IQR of 3.63 and 2.40-5.86 µg/L) with estimated score (ß) differences and 95% confidence interval (CI) of -1.8 from -4.1 to 0.5 and -2.5 from -5.1 to 0.0, respectively. This trend was stronger among children whose mothers had lower iAs methylation capacity and low urinary arsebonetaine concentrations. Conclusions Our findings suggest that exposure levels relevant to the general US population may adversely affect children’s cognitive abilities. Keywords arsenic; neurodevelopment; cognitive; Bayley Scale of Infant Development; Wechsler Preschool and Primary Scale of Intelligence; in utero exposure; Mental development index; Full scale intelligence quotient.

The cognitive functions and seizure outcomes of patients with low-grade epilepsy-associated neuroepithelial tumors.

The aim of the study was to evaluate the cognitive functions and seizure outcomes of patients with low-grade epilepsy-associated neuroepithelial tumors (LEATs). We retrospectively reviewed the clinical data of patients who underwent preoperative neuropsychological evaluations and subsequent epilepsy surgery for LEATs. The neuropsychological results of full-scaled intelligence quotient (FSIQ) and full-scaled memory quotient (FSMQ) were analyzed, as well as the postoperative seizure outcomes. Of the 138 patients included in the study, 59 patients (40.4%) were female and 47 (36.6%) patients were children. Preoperatively, 138 patients received FSIQ assessments and 30 patients (21.7%) had an intellectual deficit (FSIQ < 80 scores); 124 patients received FSMQ assessments and 32 patients (25.8%) had a memory deficit (FSMQ < 80 scores). Younger age at seizure onset (OR 0.93; P = 0.035) and discordant ictal electroencephalography (EEG) findings (OR 5.26; P = 0.001) were found to predict intellectual deficits, while abnormal hippocampus (OR 2.36; P = 0.051) as well as discordant ictal EEG findings (OR 4.03; P = 0.007) tended to cause memory deficits. During postoperative follow-up, 123 patients (90.7%) were followed up at least 12months, and among them, 105 patients (85.4%) got seizure-free (Engel class I), while 18 patients (14.6%) were not (Engel class II-IV); longer duration of epilepsy (OR 1.01; P < 0.001) and discordant interictal EEG findings (OR 5.91; P = 0.005) were found to be related to poor seizure outcomes in patients with LEATs. Cognitive deficits commonly occur in patients with LEATs, especially in patients with early or childhood seizures. Early surgical intervention, however, could prevent most of patients from repeated seizure onsets and thus cognitive impairments.

Novel mutation in DMN1L gene in child with Landau Kleffner syndrome: a rare association

Landau Kleffner syndrome (LKS), occurs in healthy children who develop progressive aphasia along with seizures usually polymorphic with associated paroxysmal Electroencephalography (EEG) changes. Described cases in literature were neurologically normal with normal development prior to onset of LKS. This syndrome has male preponderance (2:1) age group affected being 3-7 years. Majority of cases (70-80%) shows additional symptoms viz. aggressive behaviour, decreased attention span, intellectual deficits etc. Index case is 13 years old female, who had seizure as initial symptoms, followed by expressive aphasia after a latent period of 2 months. She was not able to walk/post onset of aphasia. She was neurologically normal prior to onset of seizure.

A-264 Neurodevelopmental Disorder associated with 8p23.1 Microdeletion Syndrome: A Pediatric Case Study

Abstract Objective: 8p23.1 microdeletion syndrome is a rare genetic disorder involving a partial deletion of chromosome 8. Children with this microdeletion are at increased risk for prenatal growth deficiency, congenital heart defects, craniofacial abnormalities, seizures, intellectual deficits, language impairments, motor deficits, and behavioral disorders which emphasizes the need for comprehensive neuropsychological assessment and intervention for these individuals. Method: This case study presents on the neuropsychological profile of a 9-year-old female with 8p23.1 microdeletion syndrome who had a history of absence seizures, heart valve disease, microcephaly, and developmental delays. The patient previously underwent psychological testing at age 8 and the findings revealed deficits in attention and intellectual functioning; however, her parents now had concerns for her social functioning. Results: Neuropsychological testing showed broad impairments in intellectual functioning, adaptive functioning, language, academic achievement, attention, executive functioning, memory, visuomotor skills, and social cognition. Conclusions: Recommendations were made to modify the patient’s special education academic goals, initiate various interventional services at school (e.g., speech therapy, occupational therapy, and social work), and start private ABA therapy. Continued monitoring and medication management with neurology and psychiatry were recommended as well given the patient’s history of absence seizures and problems with attentional-behavioral regulation. This case demonstrates the importance of comprehensive neuropsychological evaluation and treatment of children with certain rare genetic disorders such as 8p23.1 microdeletion syndrome in order to help improve neurodevelopmental outcomes in these patients.

OROFUNCTIONAL MANIFESTATIONS IN CHILDREN WITH MICROCEPHALY: CASE REPORTS

The study aimed to describe the clinical and dental features of 2 children diagnosed with severe microcephaly. Brazilian children of both sexes with brownish skin color and complete primary dentition presented oral hygiene difficulties as the main complaint. During anamnesis, 3 dimension (3D) cephalic perimeter reduction in occipitofrontal circumference at birth, intellectual deficit with history of respiratory complications, controlled seizures, and motor and visual impairments were reported. Extraoral clinical and functional examinations verified predominantly oral breathing, with no passive lip sealing and atypical lingual interposition. Intraoral examination revealed grinding of teeth, the presence of a biofilm, chewing on the left side, and deterioration of the occlusal surfaces of primary molars. Knowledge of facial morphology and orofunctional disorders of patients with special care needs in early childhood will allow health professionals to perform preventive and interceptive procedures in these individuals, essential points for defining a prognosis and the elaboration of a health care protocol.

Intellectual Disability Profiles, Quality of Life and Maladaptive Behavior in Deaf Adults: An Exploratory Study.

Individuals who are prelingually deaf and have intellectual disabilities experience great challenges in their language, cognitive and social development, leading to heterogeneous profiles of intellectual and adaptive functioning. The present study describes these profiles, paying particular attention to domain discrepancies, and explores their associations with quality of life and maladaptive behavior. Twenty-nine adults with prelingual deafness (31% female) and mild intellectual functioning deficits (mean IQ = 67.3, SD = 6.5) were administered the Vineland Adaptive Behavior Scales-II (VABS-II) and an adapted sign language version of a quality of life scale (EUROHIS-QOL 8). Intellectual disability domain discrepancies were characterized as at least one standard deviation difference between the social domain and IQ and the practical domain and IQ, and a significant difference, according to the VABS-II manual, between the social and practical domains. Domain discrepancies were found between intellectual functioning and both the practical (58.6%) and social domain (65.5%). A discrepancy between intellectual and social functioning was significantly associated with a higher level of internalizing maladaptive behavior (T = 1.89, p < 0.05). The heterogeneous profiles highlight the importance of comprehensive assessments for adequate service provision.

Associations of maternal urinary arsenic concentrations during pregnancy with childhood cognitive abilities: The HOME study.

Arsenic exposure during pregnancy may increase the risk for intellectual deficits in children, but limited data exist from prospective epidemiologic studies, particularly at low arsenic exposure levels. We investigated the association between prenatal maternal urinary arsenic concentrations and childhood cognitive abilities in the Health Outcomes and Measures of the Environment (HOME) Study. We used anion exchange chromatography coupled with inductively coupled plasma mass spectrometry detection to measure arsenic species content in pregnant women’s urine. The summation of inorganic arsenic (iAs), monomethylarsonic acid (MMA), and dimethylarsinic acid (DMA) refers to . We assessed children’s cognitive function (n = 260) longitudinally at 1-, 2-, and 3-years using Bayley Scales of Infant and Toddler Development, at 5 years using Wechsler Preschool and Primary Scale of Intelligence, and at 8 years using Wechsler Intelligence Scale for Children. We observed a modest decrease in mental development index and full-scale intelligence quotient at ages 3 and 5 years with each doubling of with estimated score (ß) differences and 95% confidence interval (CI) of −1.8 from −4.1 to 0.5 and −2.5 from −5.1 to 0.0, respectively. This trend was stronger and reached statistical significance among children whose mothers had lower iAs methylation capacity and low urinary arsenobetaine concentrations. Our findings suggest that arsenic exposure levels relevant to the general US population may affect children’s cognitive abilities.

Inorganic arsenic contamination and the health of children living near an inactive mining site: northern Thailand.

Arsenic toxicity is a global health problem affecting millions of people. Contamination is caused by arsenic from natural geological sources leaching into aquifers, contaminating drinking water, and may also be caused by mining and other industrial processes. Acute arsenic poisoning is associated with nausea, vomiting, abdominal pain, and severe diarrhea. Chronic arsenic toxicity results in multisystemic diseases leading to central nervous system (CNS) impairments such as cognitive or intellectual deficits in children. Over the past ten years, arsenic contamination has been reported in northern Thailand. The Ministry of Public Health; Thailand, Forensic Science Institute Thammasat University, and the Research Center to Promote Safety and Prevent Injuries in Children at the Ramathibodi Hospital compiled a report on the health impact of the population within a 10 kilometer radius around a mine tailing in the Phichit, Phitsanulok, and Phetchabun Provinces of Thailand. It showed that more than 30 % of children (aged 8-13 years) had higher than normal arsenic contamination levels based on the Agency for Toxic Substances and Disease Registry (ATSDR). After the publication of that report, the mine was temporarily closed in 2016. Based on this data, this research aimed to follow arsenic contamination after the mining operation had stopped operation for three years. The study showed that 4.5 % of school aged children had levels of inorganic arsenic in their urine, higher than the normal range (ATSDR), showing clearly that inorganic arsenic contamination is still above the normal range in children living near an inactive mining site. Therefore, monitoring heavy metal contamination in Thailand and the health effects on vulnerable children who live near mines during regular operation or after being temporarily suspended can prevent and mitigate possible health impacts.

Late offspring effects of antenatal thyroid screening.

Thyroid dysfunction in pregnancy is associated with adverse offspring outcomes and recent birth-cohort studies suggest that even mild degrees of thyroid dysfunction may be linked with a range of late cognitive and behavioural effects in childhood and adolescence. This review summarizes recent literature of observational studies and critically appraises randomized controlled trials (RCTs) of antenatal thyroid screening and Levothyroxine intervention. Overt hypothyroidism and hyperthyroidism carry significant risks for unfavourable offspring outcomes and should be appropriately corrected in pregnancy. The significance of subclinical hypothyroidism and hypothyroxinaemia is still unclear. Meta-analyses of birth-cohort studies show associations of maternal subclinical hypothyroidism and hypothyroxinaemia with intellectual deficits, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders, while hyperthyroidism and high-normal FT4 were linked with ADHD. RCTs have shown no benefits of screening on neurodevelopmental outcomes although Levothyroxine could have been initiated too late in pregnancy in these trials. A small number of studies have shown inconsistent associations of maternal thyroid dysfunction with offspring cardiometabolic indices including blood pressure and body weight. Correction of maternal thyroid dysfunction was, however, associated with favourable long-term metabolic profiles in mothers, including lipid profiles, fat mass and body mass index. Antenatal thyroid screening may therefore present opportunities for optimizing a wider range of outcomes than envisaged. Future trials with early antenatal thyroid screening and intervention are necessary to clarify the impact of screening on late offspring and maternal effects.

Validation of the Tunisian Empathy Scale for Children (TESC) in General Population and Children With Autism Spectrum Disorder.

BackgroundSeveral empathy assessment tests have been proposed worldwide but none of them took into account cultural variations that seem to affect empathic manifestations. The aim of this study was to create and validate an empathy assessment questionnaire for school-aged Tunisian children entitled “Tunisian Empathy Scale for Children” (TESC).MethodsAn evaluative cross-sectional study was conducted. The questionnaire was administered to parents of 197 neuro-typical children and 31 children with autism without associated intellectual deficits, aged between 7 and 12 years. Validation steps included: face validity, content validity, construct validity, and reliability study. A ROC curve analysis was used to investigate the diagnostic performance of the TESC.ResultsFace validity was verified with an expert panel. Content validity was examined, and 11 items were removed as irrelevant or not assessable by parents. Exploratory factor analysis extracted four domains that explained 43% of the total variance. All these domains were significantly correlated with the total score (p < 10−3) and are, respectively: empathic behaviors, affective empathy, cognitive empathy, and a combined affective and cognitive domain. The reliability study showed a satisfactory level of internal consistency of the TESC, with a Cronbach's alpha of 0.615.The diagnostic performance of the TESC in relation to autism was evaluated by the ROC curve with a sensitivity and specificity of 84.3 and 62.1%, respectively, for a total score of 16.ConclusionA 15-item questionnaire assessing empathy in a multidimensional and culturally adapted way was obtained. The psychometric qualities of the TESC were satisfactory.

L’avancée en âge des personnes atteintes de troubles du spectre de l’autisme. Éléments cliniques et psychopathologiques

ObjectivesThis article attempts, from a psychopathological perspective, to clarify the clinical evolution of patients with ASD during adulthood and into old age, and to assess the risks and the chances. In addition, the article also attempts to address the experiences of these people confronted with their own aging, the death of loved ones, and their own mortality. This study of a cohort of 314 elderly patients can provide some data concerning these changes. MethodThe study of the cohort of 314 adult and aging patients makes it possible to specify several aspects of ASD in adulthood: level of severity, associated disorders and co-morbidities (psychiatric disorders, intellectual deficit, epilepsy, neurosensory disorders, genetics). At the clinical and psychopathological level, the behavioral disorders are described therein with reference to the dominant psychopathological modes of functioning: typical autistic modalities (notion of post-autistic recourse), symbiotic modalities, acute anxious exacerbations, depressive and manic functionings. ResultsPropose an elucidation of challenging behaviors (or problem behaviors) and make it possible to address them; demonstrate that their evolution during advancing age is rather favorable while insisting on the permanent vulnerability of certain subjects. Specify the main courses of action, insisting on spatial, temporal, and relational security; on the central place of care procedures (fundamental physiological needs, consideration of somatic pathologies, specific care with psychotropic drugs, psycho-corporal approaches); and on the attention paid to everyday life, a major therapeutic mediator, through maintaining a reasonable amount of activity. DiscussionThe approach proposed here confirms that the main problem facing adults diagnosed with ASD is that of associated disorders and psychiatric co-morbidities, more than that of the fundamental symptomatic particularities necessary for the diagnosis of ASD (the autistic tripod). This requires going beyond the notion of challenge behavior and adopting a functional perspective that ultimately reveals sometimes major psychic suffering and the adaptive attempts that these patients make to cope with it. ConclusionThe clinical work with this particular population confirms the need for structured institutional work, the only thing that can ensure the coherence of the approaches to working with this diverse patient population, one that is diverse, with generally favorable developments, but which still remains very vulnerable.

Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania

Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacidic metabolism. The variations in phenylalanine-hydroxylase (PAH) gene lead to a lowered enzymatic activity causing hyperphenylalaninemia. PKU has a mean European prevalence of 1:10,000 newborns, with a large variation in different ethnicities and geographic regions. The large genetic variability (over 1200 genetic variants known) as well as other factors determines a wide spectrum of metabolic phenotypes. Untreated, PKU leads to irreversible intellectual disability, low stature, hypopigmentation, motor deficits, seizures, but the early diagnosis and treatment enables almost normal somatic and mental development. Aim. The aim of this study is the determination of the impact of non-genetic factors over the clinical phenotype of PKU patients in a region of north-west Romania. Material and method. The study group is formed from 44 patients diagnosed with phenylketonuria in the 1981 – 2021 period, found in the database of Bihor Regional Center for Medical Genetics, Emergency Clinical County Hospital, Oradea, Romania. The collected data was referring to the age, sex and domicile of the patients, the age of the diagnosis and the beginning of the treatment, also the metabolic control over the years, the metabolic phenotype of the patients and its impact on the clinical phenotype (IQ, the presence or absence of intellectual disability or the existence of a specific clinical phenotype). Results. The majority of patients (66%) were diagnosticated with phenylketonuria in the first 4 months of life, although there were cases with a late diagnosis, 20.5% of the patients were diagnosticated after the age of 1 year. Based on the pre-treatment plasmatic levels of phenylalanine, the majority of cases (72.7%) had a severe metabolic phenotype (classic PKU - cPKU), 20.5% of cases had a milder form of PKU (mPKU) and 6.8% of patients were found with a mild hyperphenylalaninemia (HPA). In the case of 23 patients, an optimal metabolic control was not obtained. The specific phenotype (blonde hair, light skin, blue eyes) was found in 22.7% of cases, 77.3% not having these features. At 68.2% of cases intellectual disability was found, with different levels of severity: 5 patients (11.5%) had liminal intellect, 9 patients (20.5%) had mild mental retardation, 6 patients (13.6%) had moderate mental retardation, 9 cases (20.5%) were with severe mental retardation and 1 patient (2.3%) had profound mental retardation; 31.8% of cases had normal intellect. The prevalence in Bihor county is 1:7,843 newborns. Discussions. A partial or, in rare cases, total lack of dietetic treatment was observed in all patients over 20 years old (current age). The delay in treatment initiation or an insufficient treatment, with a suboptimal metabolic control, will affect patient’s intellect, regardless of metabolic phenotype. If in 20 years old patients, or older, the main reason for mental retardation is the lack of dietetic treatment availability in the first years of life, for the younger patients the reason for mental retardation is usually a lack of compliance with the treatment. The majority of metabolic phenotypes is cPKU, in concordance with the literature data; the mild phenotype (HPA) was observed in a small percentage of patients, smaller than the data reported in the literature. In the first two studied decades the mild phenotypes were seldom observed. In the absence of screening tests or suggestive clinical manifestation it can be assumed that HPA patients remained undiagnosed, which would explain the small HPA percentage in the study group. A significant improvement in metabolic control in younger patients compared with older ones was observed, which denotes a better access to specific alimentation on one side, and o the other side, a better understanding of the disease from the patients and their families. Also, this study confirms a known fact that the diet in PKU is of great importance in the disease evolution. In this study there were included patients with severe metabolic phenotype with good metabolic control which reached adulthood without intellectual deficits, with higher education, social integrated and also patients with mild metabolic phenotype but with a poor metabolic control which developed intellectual deficiency. Conclusions. The PKU prevalence in Bihor county is higher than the estimated national value. The late diagnosis and treatment or the poor metabolic control led to intellectual disability, regardless of the metabolic phenotype. PKU screening and the better access to treatment allows younger generations of patients to enjoy a superior quality of life than the patients from the first two studied decades.

Hemimegalencephaly and Epileptic Encephalopathy Associated with a Variant of Uncertain Significance of the TRIO Gene

Objectives: Electrical status epilepticus during sleep (ESES) is a type of EEG pattern seen in children with childhood-onset epileptic seizures and cognitive, language and motor regression. ESES has been associated with different etiologies, with or without structural abnormalities of the brain. To replace the term “ESES”, the recent Position Paper of the ILAE Taskforce on Nosology and Definitions introduced the term Epileptic Encephalopathy with Spike-Wave Activity during Sleep (EE-SWAS), which represents an activation of epileptiform activity, typically 1.5-2.5 Hz during NREM sleep, in a previously normal child and leads to cognitive and motor regression. Pathogenic variants in the TRIO gene are associated with autosomal dominant mental retardation type 44 (MRD44), which is characterized by mildly delayed global development resulting in variable intellectual deficits, learning difficulties, and variable dysmorphic features mostly represented by facial asymmetry, microcephaly, abnormalities of the fingers, and dental anomalies. Materials and methods: We present the case of a 13-year-old girl with onset of atonic seizures at the age of 3 who had undergone different types of antiepileptic drug (AED) therapies and was seizure-free 4 years later. She had an acquired impaired cognitive status as well as hemimegalencephaly, multiple hypopigmented patches on her legs and a large patch of hypopigmentation on the left side of her face extending towards the scalp (Becker’s nevus), dental anomalies (gingival hyperplasia, ogival palate), periventricular gliosis and electroencephalographic and (EEG) findings consistent with SWAS. Outcomes: Genetic testing confirmed a heterozygous variant of uncertain significance (VUS) of the TRIO gene, possibly associated with autosomal dominant MRD44. Although our patient presented with some phenotypic similarities to MRD44, her cognitive impairment improved with control of the SWAS pattern and AED adjustments. Conclusion: Association of structural anomalies of white matter, hemimegalencephaly, and encephalopathy with SWAS and a VUS mutation of the TRIO gene might suggest a different genetic neurocutaneous syndrome altogether.

Differences of Psychopathology of Psychiatric Disorders in Adult Patients with Intellectual Disability

Intellectual disability is a mental disorder which appears during the developmental period in childhood and continues life-long. It is characterized by intellectual deficits on the one side and maladaptive social functioning on the other. The intellectual deficits include problems in abstract and logic thinking, problem solving, reasoning, learning from experience and judging. The deficits in adaptive functioning appear in problems in social communication and participation as well as in mental overload phenomena caused by daily life activities. This overload often results in psychopathological features and psychosocial reactions which are usually observed in Burn-out-Syndromes as e.g. general exhaustion (depletion of primarily reduced mental resources), additional reduced efficacy (accompanied by feelings of insufficiency and poor self-esteem), and most typically feelings alienation (towards intrinsically familiar situations, towards relatives and friends and at least also against oneself ) typically accompanied by irritability and dysphoria. Treatment programs therefore should not only focus on intellectual deficits but should include also the multiple sufferings from psychopathological phenomena and psychosocial effects of such daily life overload syndromes.DisclosureNo significant relationships.

Valores de nasalancia para vocales, serie numérica y oraciones producidas por adultos hablantes de español chileno

ObjectiveThe present study aimed to establish and compare nasalance scores in Spanish-speaking adults of both genders from Chile during the production of sustained vowels, an automatic speech sample and the reading of sentences. Methods46 adults participated, 25 women and 21 men, aged between 18 and 29 years. All without a history of speech therapy, neurological pathologies, intellectual deficit, hearing loss, syndromes or other pathologies that affect speech production. Adequate velopharyngeal function was determined in vivo through a perceptual evaluation of resonance. Nasalance was determined with the Nasometer, model 6450, during the sustained production of the vowels /a/, /i/ and /u/, an automatic repetition of the number series 1-10 and the reading of six sentences, five with consonants high pressure orals and one with nasal consonants. The comparison between both genders was made with the Mann-Whitney U test. ResultsThe sentence with nasal sounds («Mi mamá me mima») presented the highest percentage of nasalance with 66.36%, followed by the numerical series with 24.61% and the vowel /i/ with 23.57%. Meanwhile, sentences with oral sounds and sustained vowels /a/ and /u/ presented an average nasalance that fluctuated between 10.5% (vowel /u/) and 16.52% (sentence: «Fifi fue feliz»). Finally, a significantly higher average was observed in women for three oral sentences: «Pipo patea la pelota» (P=.044), «Tito tapa tarros» (P=.041), and «Fifi fue feliz» (P=.027). ConclusionThe nasalance values obtained in Chilean adults showed variations according to the speech stimulus and the gender of the speakers.

Acro-callous syndrome: A case report.

A malformative syndrome of unknown prevalence, the diagnosis is based on morphological ultrasound and magnetic resonance imaging of the fetus. The transmission is genetic and autosomal recessive. Courtnes has established 4 diagnostic criteria to affirm the acrocal syndrome and to eliminate the amalgam with other polymalformative syndrome.