General Intellectual Functioning Research Articles

Cognitive functioning in adolescents with severe obesity undergoing bariatric surgery or intensive non-surgical treatment in Sweden (AMOS2): a multicentre, open-label, randomised controlled trial

Severe obesity during childhood is associated with cognitive deficits. Studies in adults have suggested improvements in executive functioning and memory after bariatric surgery. Our aim was to explore changes in cognitive function in adolescents over two years after bariatric surgery or intensive non-surgical treatment. The Adolescent Morbid Obesity Surgery 2 (AMOS2) is a multicentre, open-label, randomised controlled trial in which adolescents (aged 13-16 years) with severe obesity (defined as body mass index (BMI) ≥35kg/m2) at three specialised obesity centres in Sweden, were randomly assigned to receive bariatric surgery or intensive non-surgical treatment. Herein we report the results of the prespecified exploratory endpoint of change in cognitive functioning. Inclusion in AMOS2 required Tanner pubertal stage ≥3, previous participation in lifestyle obesity treatment for at least one year, and passed assessment form a paediatrician and a paediatric psychologist. Adolescents with severe intellectual disability or other severe, pervasive developmental disorder were excluded. Participants underwent baseline assessment of general intellectual ability, executive functioning, and memory before randomisation. Tests were administrated by clinical psychologists and repeated at one- and two-year follow-up timepoints. Differences in means between groups during follow-up are provided with confidence intervals. The trial is registered at ClinicalTrials.gov, NCT02378259. Between October 28 2015 and June 7 2017, 46 adolescents (74% girls), with a mean age of 15.8 (±0.92) years and a mean BMI of 42.8 (±5.4) kg/m2, were included and randomised (23 to bariatric surgery and 23 to intensive non-surgical treatment). At baseline 23/46 (50%) of the adolescents had general intellectual functioning classified as borderline or below. For 15/18 (83%) aspects of cognitive functioning, no significant differences in change over two years were identified between groups; Immediate (average difference during follow-up 1.0 [95% CI:-2.6 to 4.6]) and Delayed (0.5 [95% CI:-0.6 to 1.6]) Verbal Recall, Category Fluency (1.1 [95% CI:-1.6 to 3.8]) and Switching (1.5 [95% CI:-0.0 to 2.9]), Number (-6.0 [95% CI:-12.3 to 0.3]) and Letter (0.1 [95% CI:-5.2 to 5.3]) Sequencing, Number-Letter Switching (-10.3 [95% CI:-26.4 to 5.8]), Motor Speed (-8.3 [95% CI:-17.5 to 0.9]), Colour Naming (-1.9 [95% CI:-4.2 to 0.3]), Inhibition (-3.6 [95% CI:-9.6 to 2.5]), Inhibition Switching (-6.7 [95% CI:-15.3 to 1.9]), Mazes (-0.5 [95% CI:-4.9 to 3.9]), Digit Span Forward (0.1 [95% CI:-0.6 to 0.9 ]) and Backward (0.6 [95% CI:-0.4 to 1.6 ]), and Estimated IQ (0.4 [95% CI:-3.9 to 4.8]; all p>0.05). Three sub-tests assessing fundamental cognitive skills improved more over two years in operated adolescents than in intensive non-surgical treatment; Letter Fluency (average difference during follow-up 3.8 [95% CI: 0.1-7.5]; p=0.046), Visual Scanning (-6.5 [95% CI:-11.6 to-1.5]; p=0.011), and Word Reading (-1.9 [95% CI:-3.3 to-0.4]; p=0.011). In contrast to non-randomised studies in adults, we could not demonstrate an association of bariatric surgery and its accompanying significant weight loss with overall greater improvement in executive functions and memory in adolescents over two years compared with a non-surgical group without weight loss. However, lack of statistical power is a potential limitation. The clinical relevance of greater improvements in basic cognitive skills needs to be explored. Sweden's innovation agency (VINNOVA), Swedish Research Council, Joanna Cocozza foundation for paediatric research, The Skane University Hospital Psychology Research and Development Grant, Tore Nilsson's Foundation, SUS Foundations and Donations, and Mary von Sydow's Foundation.

Over a Century of Study and Still Misunderstood: Recognizing the Spectrum of Acute and Chronic Wernicke–Korsakoff Syndrome

The aim of this study was to objectively evaluate the hypothesis that the neuropsychological presentation of Korsakoff’s syndrome, the chronic phase of Wernicke–Korsakoff syndrome (WKS), is invariably a severe, selective amnesia against a background of relatively preserved general intellectual functions in a consecutive clinical sample. An analysis of the neuropsychological profiles of nine cases with a recorded history of WKS was undertaken. All cases were adult males (ages 32 to 70) with a long history of alcohol use disorder. Eight cases were chosen retrospectively on a consecutive basis from patient referrals. One additional case was recruited prospectively. Conventional understanding and some current opinion of Korsakoff’s syndrome predicts anterograde memory to be consistently more impaired than other cognitive abilities, but this was not found in this case series. The Mean Wechsler Delayed Memory Index was not significantly different from the Wechsler Full-Scale IQ (FSIQ), p = 0.130. Regression of Delayed Memory on FSIQ produced a non-significant intercept, p = 0.213. The ‘hallmark’ criterion of anterograde memory score at least 20 points less than intelligence score was observed in four of eight cases with available data, equating to a ‘sensitivity’ of 50%. Three of eight cases with available data had an FSIQ less than the memory score. Contrary to a common view, general intellectual function was not consistently preserved in Korsakoff’s syndrome relative to memory function. This study illustrates one of the specific merits of case series, namely, to critique an established view. Clinicians and researchers should expand their diagnostic criteria for Korsakoff’s syndrome to include more variable cognitive phenotypes, including a potentially reversible dementia-like impairment of variable severity, and focus on potential treatment opportunities.

Evaluation of Cognitive Impairment in Refractory Temporal Lobe Epilepsy Patients Concerning Structural Brain Lesions

Introduction: Temporal lobe epilepsy (TLE) is the most prevalent form of drug-resistant epilepsy with concurrent cognitive impairment. Prevention, earlier diagnosis, and personalized management of cognitive deficits in TLE require more understanding of underlying structural and functional brain Ialterations. No study has evaluated the performance of TLE patients in different cognitive domains based on their structural brain lesions. Methods: In this study, 69 refractory TLE patients underwent magnetic resonance imaging (MRI) epilepsy protocol and several neuropsychological tests, consisting of the Wechsler adult intelligence scale-revised, Rey-Osterrieth complex figure test, verbal fluency test, digit span test, spatial span test, Wechsler memory scale-III, design fluency test, Rey visual design learning test, auditory-verbal learning test, and trail making test. MRI findings were classified into the following groups: Focal cortical dysplasia, gliosis, atrophy, mesial temporal sclerosis (MTS), tumor, vascular malformation, and other lesions or normal. Results of neuropsychological tests were compared between MRI groups using a generalized linear model with gamma distribution and log link. Results: Patients with MTS showed better performance in general intellectual functioning, working memory, attentional span, and auditory-verbal learning compared to patients with non-MTS MRI lesions. Atrophy and focal cortical dysplasia had the largest differences from MTS. Conclusion: Cognitive performance of refractory TLE patients varies concerning structural brain alterations. Further neuroimaging studies of TLE lead to prevention and more accurate management of cognitive decline in clinical settings.

A comprehensive cognitive profile of patients with cervical dystonia (P5-12.006)

<h3>Objective:</h3> To conduct a comprehensive analysis of cognition in cervical dystonia (CD). <h3>Background:</h3> Cervical dystonia is the most prevalent phenotype of the adult onset idiopathic focal dystonias (AOIFD), a group of hyperkinetic disorders. Patients with AOIFD have been shown to have varying abnormalities in cognition. This non-motor feature is underrecognised and may influence QoL. Studies into cognition in CD have been limited by inconsistent psychological assessment tools making generalisations difficult. We selected wide ranging neuropsychological tests to create a comprehensive cognitive profile. <h3>Design/Methods:</h3> 13 adult patients (5 male, 8 female) with idiopathic focal CD completed an extensive neuropsychological battery. Participants were screened for presence of mood disorders (HADS). All patients were receiving 3 monthly botulinum toxin treatment and were not on any medications that could influence cognition. Cognitive domains assessed: premorbid functioning, general intellectual functioning, language, information processing speed, attention, memory, executive function and social cognition using reliable and valid standardized neuropsychological assessments. <h3>Results:</h3> Mean age was 60-years. Mean HADS-A= 6 and mean HADS-D=5. CD patients showed clear evidence of cognitive dysfunction compared to normative data. The most significant impairments were noted in social cognitive measures [emotional prosody to emotional face, FAB (mean Z score: −1.75); naming emotional prosody, FAB (mean Z score: −0.81)], executive function [SWMBE468, CANTAB (mean Z score: −0.73)] and, memory [LM2, WMS (mean Z score: −0.82)]. Moderate impairments were seen in information processing speed [WAIS coding (mean Z score: −0.51)], language [Boston Naming Test (mean Z score: −0.51)] and attention and working memory [RVPA, CANTAB (mean Z score: −0.61)]. Patients performed better than controls in another aspect of social cognition [conflicting emotional prosody, FAB (Z score: 1.67)]. <h3>Conclusions:</h3> There is mounting evidence of cognitive deficits in CD, implicating cognitive pathways in disease pathogenesis. This non-motor aspect may influence QoL and patient satisfaction. Early recognition and neuropsychological input could improve outcomes. <b>Disclosure:</b> Ms. Diepman has nothing to disclose. Dr. Rafee has nothing to disclose. Ruth Monaghan has nothing to disclose. Miss McCormack has nothing to disclose. Dr. Hutchinson has nothing to disclose. Dr. O’Keeffe has nothing to disclose.

Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes.

Corpus callosum dysgenesis is a congenital abnormality whereby the corpus callosum fails to develop normally, and has been associated with a range of neuropsychological outcomes. One specific finding in some individuals with corpus callosum dysgenesis is "congenital mirror movement disorder", which is the presence of involuntary movements on one side of the body that mimic voluntary movements of the other side. Mirror movements have also been associated with mutations in the deleted in colorectal carcinoma (DCC) gene. The current study aims to comprehensively document the neuropsychological outcomes and neuroanatomical mapping of a family (a mother, daughter and son) with known DCC mutations. All three family members experience mirror movements, and the son additionally has partial agenesis of the corpus callosum (pACC). All family members underwent extensive neuropsychological testing, spanning general intellectual functioning, memory, language, literacy, numeracy, psychomotor speed, visuospatial perception, praxis and motor functioning, executive functioning, attention, verbal/nonverbal fluency, and social cognition. The mother and daughter had impaired memory for faces, and reduced spontaneous speech, and the daughter demonstrated scattered impairments in attention and executive functioning, but their neuropsychological abilities were largely within normal limits. By contrast, the son showed areas of significant impairment across multiple domains including reduced psychomotor speed, fine motor dexterity and general intellectual functioning, and he was profoundly impaired across areas of executive functioning and attention. Reductions in his verbal/non-verbal fluency, with relatively intact core language, resembled dynamic frontal aphasia. His relative strengths included aspects of memory and he demonstrated largely sound theory of mind. Neuroimaging revealed an asymmetric sigmoid bundle in the son, connecting, via the callosal remnant, the left frontal cortex with contralateral parieto-occipital cortex. Overall, this study documents a range of neuropsychological and neuroanatomical outcomes within one family with DCC mutations and mirror movements, including one with more severe consequences and pACC.

(Not) getting what you want: frustration and emotion regulation in children with sex chromosome trisomies.

The presence of an additional X or Y chromosome (sex chromosome trisomies, SCT) is associated with an increased risk for neurodevelopmental difficulties, including socio-emotional problems, across the life span. Studying emotion regulation in young children with SCT could signal deviations in emotional development that serve as risk markers to guide clinical care. This study explored the presence and variety of emotion regulation strategies in 75 SCT children and 81 population-based controls, aged 1-7 years, during a frustration-inducing event in which physiological (heart rate) and observational data (behavioral responses) were collected. Children with SCT were equally physiologically aroused by the event as compared to controls. However, they showed more emotion regulation difficulties in terms of behavior compared to controls that were not explicable in terms of differences in general intellectual functioning. Specifically, they had a more limited range of behavioral alternatives and tended to rely longer on inefficient strategies with increasing age. The field of practice should be made aware of these early risk findings regarding emotion regulation in SCT, which may potentially lay the foundation for later socio-emotional problems, given the significant impact of emotion regulation on child and adult mental health outcomes. The current results may help to design tailored interventions to reduce the impact of the additional sex chromosome on adaptive functioning, psychopathology, and quality of life.

Dissecting Schizotypy and Its Association With Cognition and Polygenic Risk for Schizophrenia in a Nonclinical Sample.

Schizotypy is a multidimensional construct that captures a continuum of risk for developing schizophrenia-spectrum psychopathology. Existing 3-factor models of schizotypy, consisting of positive, negative, and disorganized dimensions have yielded mixed evidence of genetic continuity with schizophrenia using polygenic risk scores. Here, we propose an approach that involves splitting positive and negative schizotypy into more specific subdimensions that are phenotypically continuous with distinct positive symptoms and negative symptoms recognized in clinical schizophrenia. We used item response theory to derive high-precision estimates of psychometric schizotypy using 251 self-report items obtained from a non-clinical sample of 727 (424 females) adults. These subdimensions were organized hierarchically using structural equation modeling into 3 empirically independent higher-order dimensions enabling associations with polygenic risk for schizophrenia to be examined at different levels of phenotypic generality and specificity. Results revealed that polygenic risk for schizophrenia was associated with variance specific to delusional experiences (γ = 0.093, P = .001) and reduced social interest and engagement (γ = 0.076, P = .020), and these effects were not mediated via the higher-order general, positive, or negative schizotypy factors. We further fractionated general intellectual functioning into fluid and crystallized intelligence in 446 (246 females) participants that underwent onsite cognitive assessment. Polygenic risk scores explained 3.6% of the variance in crystallized intelligence. Our precision phenotyping approach could be used to enhance the etiologic signal in future genetic association studies and improve the detection and prevention of schizophrenia-spectrum psychopathology.

Determining the neurocognitive profile of children with tuberous sclerosis complex within the Western Cape region of South Africa.

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with a wide spectrum of cognitive impairments that can often result in impaired academic, social and adaptive functioning. However, studies investigating TSC have found it difficult to determine whether TSC is associated with a distinct cognitive phenotype and more specifically which aspects of functioning are impaired. Furthermore, children with TSC living in low-income and middle-income countries, like South Africa, experience additional burdens due to low socio-economic status, high mortality rates and poor access to health care and education. Hence, the clinical population of South Africa may vary considerably from those populations from high-income countries discussed in the literature. A comprehensive neuropsychological battery composed of internationally recognised measures examining attention, working memory, language comprehension, learning and memory, areas of executive function and general intellectual functioning was administered to 17 children clinically diagnosed with TSC. The exploration of descriptive data indicated generalised cognitive difficulties in most cognitive domains, aside from memory. With only two participants performing in the average to above-average ranges, the rest of the sample showed poor verbal comprehension, perceptual reasoning, working memory, processing speed, disinhibition, and problems with spatial planning, problem solving, frustration tolerance, set shifting and maintaining a set of rules. Furthermore, correlational findings indicated several associations between socio-demographic and cognitive variables. Importantly, this is the first study to comprehensively examine multiple domains of neurocognitive functioning in a low-resource setting sample of children with TSC. Current study findings showed that children with TSC have generalised impairments across several cognitive domains, rather than domain-specific impairments. Therefore, although examining individual aspects of cognition, such as those found in previous literature, is important, this approach is limiting. With a comprehensive assessment, including understanding the associations between domains, appropriate and directed support can be provided to ensure all aspects of development are addressed and considered.

Is WISC-IV Working Memory Index associated with ADHD symptoms in 7–8-year-olds?

The Working Memory Index (WMI) in the Wechsler Intelligence Scale for Children (WISC) has been suggested to be associated with ADHD symptoms. The relationship between WMI and ADHD symptoms in the general population is not clear. The study aimed to examine the association between working memory (WM) and behavioral regulation (BR), and hyperactivity/inattention (HI) in a general population sample of 7–8-year-olds, and whether general intellectual functioning is associated with BR and HI. The study also examined if those with low WMI also fulfill elevated ADHD criteria. The study group (N = 865) was assessed with the WISC (Fourth edition), the Behavior Rating Inventory of Executive Function, the Strengths and Difficulties Questionnaire, and the Five to Fifteen Questionnaire, and divided into three groups based on WM function, and in relation to BR and/or HI problems. The associations between WM and BR, and WM and HI, including intellectual functioning as covariate, were examined. WM deficits were found in 22%, but the majority of those had no BR or HI problems. Four percent in the study group had WM deficits combined with BR and/or HI problems, and in about one third of those inattentive ADHD criteria were fulfilled. WM and prosocial behavior were associated with BR and HI. WM deficits measured with WISC WMI in 7–8-year-olds do not always signal BR and/or HI problems.

Corpus callosum structural characteristics in very preterm children and adolescents: Developmental trajectory and relationship to cognitive functioning

Previous studies suggest that structural alteration of the corpus callosum, i.e., the largest white matter commissural pathway, occurs after a preterm birth in the neonatal period and lasts across development. The present study aims to unravel corpus callosum structural characteristics across childhood and adolescence in very preterm (VPT) individuals, and their associations with general intellectual, executive and socio-emotional functioning. Neuropsychological assessments, T1-weighted and multi-shell diffusion MRI were collected in 79 VPT and 46 full term controls aged 6–14 years. Volumetric, diffusion tensor and neurite orientation dispersion and density imaging (NODDI) measures were extracted on 7 callosal portions using TractSeg. A multivariate data-driven approach (partial least squares correlation) and a cohort-based age normative modelling approach were used to explore associations between callosal characteristics and neuropsychological outcomes. The VPT and a full-term control groups showed similar trends of white-matter maturation over time, i.e., increase FA and reduced ODI, in all callosal segments, that was associated with increase in general intellectual functioning. However, using a cohort-based age-related normative modelling, findings show atypical pattern of callosal development in the VPT group, with reduced callosal maturation over time that was associated with poorer general intellectual and working memory functioning, as well as with lower gestational age.

A comprehensive cognitive analysis of cervical dystonia: A single centre study

IntroductionCervical dystonia (CD) presents as a motor disorder but has a number of non-motor features. Studies have demonstrated diverse changes in cognition in patients with CD. The rarity of this disorder, phenotypic heterogeneity, and, in particular, a lack of consistency in cognitive testing measures limits clear definition of cognitive changes in this disorder. The relationship between cognition, motor symptoms and quality of life has not been well defined. We undertook a comprehensive analysis of cognition in CD. MethodsPatients with adult onset idiopathic isolated CD (AOICD) who had completed a battery of cognitive assessments- general intellectual functioning, verbal and visual memory, executive functions and social cognition measures, were included. Participants were assessed for mood symptoms, motor severity and quality of life. Results13 patients (8 women) with AOICD were included covering 40 cognitive subtests. Mean age was 59.9 years and mean TWSTRS-2 severity was 11. Mean estimated premorbid function was in the normal range. Overall performance on most measures were within normal limits. The lowest mean z-score was observed in Florida Affect Battery (social cognition) subtests, z = −1.75 and −0.81. and in verbal recall, z = −0.82. The majority of patients (75%) scored below population mean on spatial working memory and (62%) performed below population mean on word retrieval and working memory. ConclusionWe provide detailed cognitive results across a wide range of measures. Although patients tended towards average outcomes on the majority of tests, poorer performance than expected averages were noted in measures of social cognition, word retrieval, spatial working memory and, processing speed.

Gambaran Perilaku Orang Tua dalam Menjaga Kesehatan Gigi dan Mulut Anak Tunagrahita Tingkat SD – SMP di SLB Negeri 2 Padang

Introduction: Children with special needs, especially in groups of mentally retarded has greater risk of poor oral hygiene. Mental retardation is a term to describe individuals with below-average general intellectual functioning. Mental retardation and lack of coordination in movement in mentally retarded cause them haven’t skills to clean their teeth and mouth independently so they tend to be guided and cared by their parents. Objective: to describe behaviour of parents in maintaining the oral health of mentally retarded children at SD – SMP levels in SLBN 2 Padang. Methods: This study was categorical descriptive quantitative with cross sectional design. The number of samples is 40 respondents. Data were collected by filling out a questionnaire on how to maintain oral and dental health in mentally retarded children. Results: This study showed the level of knowledge of parents as much as 60% in the high category, attitudes of parents as much as 67% in the good category, and practices of parents as much as 47.5% in the moderate category. Conclusion: The level of behaviour of parents in maintaining the dental and oral health of mentally retarded children at the SD – SMP level in SLBN 2 Padang is in the good category.

An evaluation of the convergent validity of a face-to-face and virtual neuropsychological assessment counter balanced.

The COVID-19 pandemic has highlighted the need for further research evaluating the validity of conducting a battery of neuropsychological assessments virtually compared with face-to-face administration. Previous research has suggested that some neuropsychological assessments yield valid results when administered virtually, however, much of the previous research focused on older adults. To determine the validity of virtually administered neuropsychological tests, 28 healthy participants were assessed using a within-subjects, counter-balanced design. Participants completed a neuropsychological assessment battery covering tests of general intellectual functioning, memory and attention, executive functioning, language and information processing speed, as well as effort. There was no significant difference between face-to-face administration of the neuropsychological battery compared with virtual administration for the majority of the tests used. However, there were significant differences in the Colour Naming Task, with participants making fewer errors on the colour naming task and inhibition/switching task when administered virtually compared with face-to-face administration. There was also a significant age cohort effect in the inhibition/switching task. There was also a trending significant difference in mode of administration for the Verbal Fluency Task. Virtually administered neuropsychological assessments largely provide a valid alternative to face-to-face assessments; however, consideration must be given to test selection as well as the population of participants that are being assessed. Other important considerations must focus on preserving the security and integrity of test materials, as well as administration in a medico-legal setting. Future research should focus on validating assessments with specific patient populations and developing a neuropsychological assessment battery using information technology.

Cognitive functioning and mental health in children with a primary mitochondrial disease

BackgroundStudies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functioning and its relationship with disease parameters is essential to gather more insight in working mechanisms and provide recommendations for future research and patientcare. The aim of this study was to map the cognitive functioning and mental health in children with MD in relation to disease specific factors.MethodsPediatric patients (< 18 year) with a genetically confirmed MD were included. Demographic and disease specific factors (International Paediatric Mitochondrial Disease Scale) were assessed, as well as cognitive functioning (intelligence, attention, working memory (WM)), and mental health (psychological functioning and quality of life). Individual patient data was described.ResultsThirty-three children with MD were included. Intellectual functioning ranged from a clinically low IQ (36% of the patients, N = 12/33) to an average or above average IQ (39%, N = 13/33). A higher verbal versus performance IQ was observed (36% N = 5/14), a lower processing speed (43%, N = 6/14), attentional problems (50%, N = 7/14), and verbal WM problems (11%, N = 2/18). Regarding mental health, general behavioral problems were reported (45%, N = 10/22), and on subscale level, attention problems (45%, N = 10), withdrawn/depressed (36%, N = 8/22) and anxious/depressed behavior (14%, N = 3/22). Furthermore, QoL impairments were reported (42%, N = 5/12). The specific intelligence profiles, cognitive impairments, behavioral problems and QoL impairments occurred in every intelligence subgroup. Children with an average or above general intellectual functioning had a generally lower and less variability in IPMDS scores, less frequently epilepsy, vision and hearing problems, and a relatively later age of onset, as compared to patients with a clinically low intellectual functioning.ConclusionsDespite considerable heterogeneity, overall results showed a high rate of impairments in both cognitive and mental health functioning. Also in children with an average or above level of intellectual functioning, specific cognitive impairments were observed. Children with a clinically low intellectual functioning more often had disease related impairments compared to children with a higher intellectual functioning. The importance of structural assessment of cognitive functioning and mental health is warranted, also in children with mild disease related symptoms.

A-267 Pediatric Neuropsychology Genetic Consultation: Rare de novo GCK Mutation with Severe Persistent Congenital Hyperinsulinemia (CH/CHI)

Abstract Objective: Chromosomal abnormalities may result in neurodevelopmental delay. Mutations in the gene encoding the enzyme glucokinase (GCK) have been shown to result in congenital hyperinsulinemia (CH/CHI) and hyperglycemia (Galcheva et al., 2019). GCK is important for both glucose metabolism and homeostasis (Kraslow et al., 2021). Methods: The present case involves a 5-year-old, right-handed, Caucasian male, with a history of chromosomal abnormalities. DNA sequence analysis performed by PCR amplification of highly purified genomic DNA, followed by automated bi-directional DNA sequencing of coding regions of the genes revealed: GCK Variant 1: Transition T&amp;gt;C; Nucleotide position: 295; Codon position: 99; Amino acid change: Tryptophan&amp;gt;Arginine; DNA variant type: Disease-associated mutation, heterozygous; Inheritance: Autosomal Dominant; and Phenotype: CH. The patient had a history of severe persistent CH/CHI, obstructive sleep apnea, congenital chordee, cholelithiasis, and gross motor delay. He was referred for neuropsychological testing to ascertain the extent of his neurodevelopmental issues. Results: Neuropsychological testing revealed a diagnosis of a neurodevelopmental disorder characterized by an attention-deficit/hyperactivity disorder—combined type, dysexecutive syndrome/executive functioning disorder, below average general intellectual functioning and retention of new information, and severe behavioral dysregulation. Conclusion: Rare de novo GCK mutations with severe persistent CH/CHI are uncommon (Kraslow et al., 2021). According to Roper et al. (2020), roughly up to 48% of neonates affected with CH/CHI may exhibit sequelae of neurodevelopmental delay and intellectual disabilities. Analyses of GCK mutations and resultant neuropsychological deficits are rarely reported. Our case highlights the importance of pediatric neuropsychology genetic consultation in elucidating neurodevelopmental sequelae and academic and rehabilitation recommendations.

Specific Learning Disorders and Special Educational Needs during COVID-19 Pandemic; Pilot Survey Study Performed in Local District Schools in Italy.

Specific Learning Disorders (SLD) are a group of heterogeneous health deficits frequently diagnosed in early childhood that cause difficulties in general intellectual functioning. In the last decades in Italy new laws have been developed to give practical guidelines for the best education plans for children with SLD. Background: The aim of our study was to determine the efficacy of the educational treatment on SLD in Primary and Secondary schools in the Italian city of Barletta. We acquired valuable data to evaluate Special Education Needs during COVID-19. Methods: Our study was conducted from April to June 2021, during the second “lockdown” period in Italy. A fact-finding survey was conducted to schools with a questionnaire provided to the teachers to acquire data on the SEN applied in the management of distance learning for children. Results: The study involved 15 male and 6 female pupils with SLD in Primary Schools and 18 male and 6 female in Secondary Schools. The schools participating in the study organized distance learning programs with a support teacher with a 1:1 ratio. Data showed that all children with SLD needed a support teacher. Conclusions: The findings of this pilot study suggest that distance learning programs are able to achieve adequate educational goals, despite the difficulties of the lockdown period.

Abstract- Poster

INTRODUCTION.§ Frontotemporal dementia (FTD) refers to a group of dementias characterized by degeneration in the frontal and temporal lobes of the brain. Rates of early-onset FTD are high with 13% of individuals with FTD being under the age of 50.§ Younger cases of FTD tend to exhibit frequent abrupt mood changes, increased aggression, behavioral disinhibition, lack of empathy, and deficits in working memory.There are three clinical presentations of FTD: behavioral variant (bvFTD) and two forms of primary progressive aphasia.Here we report a a 37 yr Old married man was brought with complaints of a progressive history of changes in behaviour and personality.The patient was in good baseline health until age 35 years, when his family noticed an increase in change in behavior with history of cannabis smoking for 2 yrs, H/O multiple extra marital affairs for 2 yrs,with H/O restlessness,dull and withdrawn, sleep disturbance,poor self care, refusing to eat properly, slowly not speaking to anyone, poor work performance for the past 6 months. He was diagnosed as a case of substance induced psychosis with catatonic features and treated. Again after three months pt presented to psychiatric opd with complaints of restlessness, speech difficulty forgetting things, inappropriate laugh,disinterest in daily activities, walking in the house all the time, disinhibited behaviour,weight loss,excessive craving for tobacco,putting inedible things at mouth all these symptoms for one month.On Mse O/E he was alert,ambulant,kempt,yawning frequently during interview, not cooperative, sits in chair and gets up frequently, no Spontaneous speech. He did not attempt to initiate conversation, answering questions with short, terse responses. relevant replies. He often gazed with a prolonged, fixed stare and exhibited motor stereotypies such as clapping his thighs or tapping his feet vigorously.— There were no upper or lower motor neurone signs, frontal release signs positive, and no parkinsonism or limb apraxia. His gait was normal. He scored only 55 out of 100 on the Addenbrooke’s Cognitive Examination-III, with impairments across domains but with particularly poor executive function (naming only two words beginning with P in a minute, and only 10 animals over a minute, leading to a very low verbal fluency score of 4 out of 14). Attention (score 12 out of 18), language (19 out of 26), memory (9 out of 26) and visuospatial (11 out of 16) abilities were also affected.— Further neuropsychological testing identified a global reduction in general intellectual function, with severe executive function deficits as well as poor verbal working— Neurology opinion obtained as a case of young onset FTD— MRI scan of the brain showed substantial bilateral, symmetrical frontal atrophy, with no evidence of white matter changes that would be typical of a vascular, vasculitic or inflammatory cause (figure 1). In addition, autoimmune encephalitis was negative; and HIV and syphilis serology were all normal or negative. Cerebrospinal fluid (CSF) contained no white cells or abnormal cells and therefore no evidence of an active inflammatory, infective or malignant process; the CSF protein concentration was also normal. PET scan suggestive of FTDReference 1. Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011;134:2456?77.2. Lebert F, Stekke W, Hasenbroekx C, et al. Frontotemporal dementia: a randomised, controlled trial with trazodone. Dement Geriatr Cogn Disord 2004;17:355?9.3. Warren JD, Rohrer JD, Rossor MN. Clinical review. Frontotemporal dementia. BMJ 2013;347:f4827.4. Neumann M, Mackenzie IRA. Review: Neuropathology of non-tau frontotemporal lobar degeneration. Neuropathol Appl Neurobiol 2019;45:19?40.5. Mann DMA, Snowden JS. Frontotemporal lobar degeneration: pathogenesis, pathology and pathways to phenotype. Brain Pathol 2017;27:723?36. Ct brain showed bilateral frontoparietotemporal Subdural HYGROMA.Neurologist opinion obtained. There was no focal neurological defecit and conservative management suggested. Patient was treated with tab risperidone 2mg 1-0-1 tab sodium valproate 200 mg 1-1-1, tab diazepam 5mg 0-0-1, her symptom improved with treatment (ymrs-12.)

ROLE OF PARENTS IN THE EDUCATIONAL DEVELOPMENT OF MENTALLY RETARDED LEARNERS

Parents can play a vital role in the training and development of children with intellectual disabilities. In training of functional skills among children with disabilities parents help a lot in achieving target goals. The purpose of the study was to study the role of parent's involvement in education on the academic performance of the mentally retarded learners. Mental retardation is a problem with impact on the whole spectrum of domesticconcerns confronting the nation today. The education of students with mental retardation has an interesting history. Mental retardation is a condition characterized by low general intellectual functioning and deficits in adaptive behavior Ndurumo (1993). The American Association on Mental Retardation definition state that mental retardation is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. This disability originate before age 10.(Luckasson et al., 2002,p.1). All children are unique individuals and stereotypes or suggestions certain children are a “type” must be avoided. Deborah(1992) notes that, children with intellectual challenges exist in our communities and we should accept the challenges of living and working with them. The parents are the first and most important teachers for children, as they play the role of teaching during interaction with children (Lin, 1996). Epstein (1992) also pointed out that, the family has an important influence upon children as they stay at home much longer than at school as well as more in-family interaction than schooling. Now the present conceptual papers based on objectives with (i) To understand the basic characteristics of mentally retarded learners’. (ii) To understand the role of parents in education for mentally retarded students. (iii) To discuss the Some Differences Common to Educable Retarded Pupils.

Is the Intellectual Functioning Component of AAIDD's 12th Manual Satisficing?

Is the Intellectual Functioning Component of AAIDD's 12th Manual Satisficing?

Neurocognitive functioning in young adults with congenital heart disease: insights from a case-control study

While there is evidence that cognitive impairment of children with congenital heart disease (CHD) may persist into adolescence, little is known about the spectrum of neurocognitive functioning of young adults with this disorder. The aim of this study was to assess neurocognitive functioning in a population of young adults with different types of CHD. Cross-sectional cohort study in young adults with CHD and a group-matched healthy control group. We assessed neurocognitive and general intellectual functioning with a comprehensive battery of standardised neuropsychological tests. In addition to task-based assessments, questionnaire data of executive dysfunctions in everyday life were measured with the Behaviour Rating Inventory of Executive Function - Adult Version. A total of 67 patients (55% men) with CHD and 55 healthy controls (51% men) were included for analysis. Mean age at assessment was 26.9 (3.68) and 26.0 (3.32) years, respectively. The CHD group performed poorer in the domains of Executive Functions, Memory, Attention & Speed, and general intellectual functioning. Patients with a CHD of severe complexity were more affected than patients with simple or moderate complexity. Behaviour Rating Inventory of Executive Function - Adult Version scores indicated that patients' self-rated deficits in behaviour regulation in everyday life was higher compared with healthy controls. Our findings indicate lower neurocognitive functioning in young adults with a CHD, particularly in those with severe defect complexity. In view of the potentially enhanced risk for cerebrovascular and neurodegenerative disease in this patient group as reported in the literature, systematic longitudinal monitoring of cognitive functioning is recommended.