Level Of Intellectual Functioning Research Articles

Neurocognitive Functioning is Impaired in Perinatally HIV-Infected Youth.

The present study examined neurocognitive differences between Perinatally HIV (PHIV)-infected-youth and age and gender matched healthy controls. Despite early, long-term anti-viral treatment (ART), significant neurocognitive deficiencies remain for PHIV-infected-youth reaching adulthood compared to controls. Participants were assessed with a comprehensive neuropsychological battery. An Overall Neurocognitive Composite Score and a Global Deficit Score (GDS) were created. Sleep, depression, and developmental level of intellectual functioning were also examined. PHIV-youth performed more poorly than controls in all neurocognitive domains. Very large effect sizes were observed for the Overall Neurocognitive Composite Score and GDS. PHIV-infected-youth appear to be significantly more depressed compared to controls, but there were no differences in amount or type of sleep observed. Despite early, long-term anti-viral treatment (ART), neurocognitive deficiencies remain for PHIV-infected-young-adults. The verbal learning domain was significantly impaired with implications for functioning. The PHIV-infected-youth were also depressed and not receiving treatment for depression.

Everyday Executive Function in Preschoolers with Autism and Links with Intellectual Functioning, Adaptive Behavior, and Autism Symptoms.

Impairments in executive function (EF) among individuals with autism spectrum disorder and their association with negative academic, adaptive, and social functioning outcomes have been widely reported over the past 20 years. However, there remains a lack of understanding of EF in autism during the preschool period, an age at which several crucial abilities (including EF) emerge. The present study therefore sought to document everyday EF in preschool-aged children with autism and its associations with other clinical characteristics. Parents rated the EF of their preschool-aged child with autism (M = 30-65 months, N = 288) using the Behavior Rating Inventory of Executive Function-Preschool Version (BRIEF-P; Gioia, G. A., Espy, K. A., & Isquith, P. K. (2003). Behavior Rating Inventory of Executive Function-Preschool Version. Psychological Assessment Resources.). Intellectual quotient, adaptive behavior, and autism symptom severity were also assessed. Preschoolers with ASD displayed impairments in everyday EF, particularly in relation with inhibition and working memory. Greater challenges in EF were strongly associated with lower levels of adaptive behavior and a higher severity of autistic symptoms. To a lesser extent, EF challenges were also associated with lower levels of intellectual functioning. The early assessment and detection of EF difficulties in preschoolers with ASD may assist in developing and integrating specific intervention targets to improve these essential abilities within existing early intervention programs for ASD. This could help to maximize their effectiveness and limit the extent of difficulties these children may face growing up.

Understanding Suicidal Behaviour and Distress in Young Muslim Canadians: A Qualitative Study

BACKGROUND: Suicide is a major public health concern worldwide, including in Canada. The onset of major mental illnesses occurs during adolescence and young adulthood. Among this group, young Muslims in Canada may be particularly vulnerable due to unique stressors and emerging evidence indicating that Muslims in the U.S. report more suicide attempts than other religious groups. To our knowledge, no prior study has undertaken an in-depth exploration of the lived experiences of Muslim young adults who have attempted suicide. This study aims to broaden our understanding of how Muslim young adults experience and understand suicidal behavior by exploring narratives of distress and help-seeking, the meanings of suicidal behavior, the impact of immigration/resettlement, discrimination, Islamophobia, and the role of negotiating multiple religious, cultural, and gender identities. METHODS: This study is currently in progress. We are recruiting approximately 25-30 Muslim youth between the ages of 15-24 who have experienced suicidal behavior with any intent to die, as reported by the participants themselves, within the Greater Toronto Area (GTA). Exclusion criteria include (1) active substance intoxication or withdrawal, (2) current admission to a psychiatric facility, and (3) low levels of intellectual functioning or a history of neurological impairment. We are conducting heterogeneous purposive sampling to ensure that our sample includes diversity in terms of gender, age, countries of origin, and first and second-generation youth. Recruitment will end when data saturation is reached. Each participant will take part in a semi-structured qualitative interview. The interview explores family and social contacts, immigration/acculturation experiences, gender and cultural roles, and views on religion. Data is being transcribed and analyzed in N-Vivo 12 software using constructivist grounded principles entailing simultaneous collection and analysis, inductive construction of abstract categories explaining social processes, sampling and categorical refinement through iterative analysis, and integration of categories into a theoretical framework. RESULTS: Preliminary data analysis is in progress based on participants (n=15) recruited thus far. Emerging themes in relation to the causes of suicidality include isolation and an inability to cope with multiple stressors, such as family conflict and physical illness. Religion has a varied effect on suicidality, ranging from minimal to strong influence and from being protective to triggering suicidality. Regarding barriers to care, emerging themes included fear of invalidation, Islamophobia, and the lack of cultural safety within the healthcare system. Notably, youth appear to have a different explanatory model for mental illness compared to their family/community. CONCLUSION: This is the first qualitative study examining the experiences of Canadian Muslim youth who have experienced suicidal behavior. Our findings will help elucidate the unique stressors and protective factors that influence suicide and suicidal behavior for Canadian Muslim youth. Understanding patterns of distress and barriers to care through qualitative analysis will provide critical context to ultimately develop appropriate and effective screening, service provision, and suicide prevention strategies.

Time-frequency analyses of repetition suppression and change detection in children with neurofibromatosis type 1

Children with neurofibromatosis type 1 (NF1) are at increased risk of developing cognitive problems, including attention deficits and learning difficulties. Alterations in brain response to repetition and change have been evidenced in other genetic conditions associated with cognitive dysfunctions. Whether the integrity of these fundamental neural responses is compromised in school-aged children with NF1 is still unknown.In this study, we examined the repetition suppression (RS) and change detection responses in children with NF1 (n = 36) and neurotypical controls (n = 41) aged from 4 to 13 years old, using a simple sequence of vowels. We performed time–frequency analyses to compare spectral power and phase synchronization between groups, in the theta, alpha and beta frequency bands. Correlational analyses were performed between the neural responses and the level of intellectual functioning, as well as with behavioral symptoms of comorbid neurodevelopmental disorders measured through parental questionnaires.Children with NF1 showed preserved RS, but increased spectral power in the change detection response. Correlational analyses performed with measures of change detection revealed a negative association between the alpha-band spectral power and symptoms of inattention and hyperactivity. These findings suggest atypical neural response to change in children with NF1. Further studies should be conducted to clarify the interaction with comorbid neurodevelopmental disorders and the possible role of altered inhibitory mechanisms in this enhanced neural response.

Cross-sectional and longitudinal assessment of cognitive development in Williams syndrome.

Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of individuals with WS to-date. In Study 1, we report cross-sectional data between N=102 and N=209 children and adults with WS on measures of verbal and non-verbal ability. In Study 2, we report longitudinal data from N=17 to N=54 children and adults with WS who had been tested on at least three timepoints on these measures. Data support the WS characteristic cognitive profile of stronger verbal than non-verbal ability, and shallow developmental progression for both domains. Both cross-sectional and longitudinal data demonstrate steeper rates of development in the child participants than the adolescent and adults in our sample. Cross-sectional data indicate steeper development in verbal than non-verbal ability, and that individual differences in the discrepancy between verbal and non-verbal ability are largely accounted for by level of intellectual functioning. A diverging developmental discrepancy between verbal and non-verbal ability, whilst marginal, is not mirrored statistically in the longitudinal data. Cross-sectional and longitudinal data are discussed with reference to validating cross-sectional developmental patterns using longitudinal data and the importance of individual differences in understanding developmental progression.

Does Occupational Lead Exposure Affect the Relationship Between Neurobehavioral Characteristics and Productivity?

Background & Aims: Lead (Pb) may cause cognitive impairments in both recent acute and chronic exposures. In this study, the effect of Pb exposure on the relationship between neurobehavioral characteristics and productivity was evaluated among battery manufacturing workers. Materials and Methods: In general, 179 production workers and 179 office workers participated in this cross-sectional study. Venous blood sampling was used to measure the level of Pb in the blood. Psychomotor performance and intellectual functioning were measured using the digit symbol substitution test and the Wechsler adult intelligence scale-revised, respectively. Finally, productivity was assessed using a health and work performance questionnaire. Results: Exposed workers had a significantly higher level of Pb, while a lower level of intellectual functioning and psychomotor performance than non-exposed workers. The results of linear regression indicated that the increase in the blood level of Pb was accompanied by a significant decrease in the positive effects of intellectual functioning on productivity. However, exposure to Pb had no effect on the relationship between psychomotor performance and productivity. Conclusion: Occupational exposure to Pb affected the relationship between psycho-diagnostic performance and productivity and could induce neurobehavioral dysfunction in the exposed workers. For the early detection of cognitive impairment, the neurobehavioral assessment is recommended to be implemented in work assessments.

Studying spatial orientation and constructive praxis disorders in normally developing and mentally retarded children aged 8-11 years

The ability to orientate oneself in space is one of the basic requirements for the harmonious development of a person. The problem of human orientation in space is very complex. It includes both ideas about the size and shape of objects and the ability to distinguish the location of objects in space, and understanding different spatial relationships. The concept of spatial orientation includes the evaluation of distances, sizes, shapes, mutual position of objects and their position relative to the orienting object. Spatial orientation is significantly impaired in mentally handicapped children, since the impairment of mental development not only limits their motor activity, but also negatively affects the development of time representations, musculoskeletal functions and leads to a decrease in compensatory processes. The purpose of this study is to identify spatial orientation and constructive praxis disorders in normally developing and mentally retarded children aged 8-11 years. Materials and Methods. The methodological basis of this research investigation was scholarly literature devoted to studying nervous functions in children with mental development disorders and interhemispheric asymmetry of the brain, regulation of these functions, identifying difficulties, modeling the system of work with these children and constructive praxis disorders in normally developing and mentally retarded children aged 8-11 years (Boguslavskaya, Miroshnichenko, 2019, Maryutina, Yermolaev 2001, Reuter-Lorenz and others, 2000, Azatyan2022). The study was conducted in the research laboratory of the Faculty of Special and Inclusive Education at the Armenian State Pedagogical University after Kh. Abovyan and research laboratory in Armenian state institute of physical culture and sport. A total of 131 children aged between 8 and 11 years participated in the study, including 73 healthy schoolchildren and 58 children with mild mental retardation. The degree of intellectual disability was assessed based on medical indications, degree of social adjustment, level of intellectual functioning, and learning outcomes in special education classes. Each category of participants was divided into 2 age groups: 8-9 years old and 10-11 years old. Results. The article discusses the main issues of studies of spatial orientation and constructive praxis in normally developing and mentally retarded children aged between 8 and 11 years, provides a scientific rationale for the problem, taking into account previous research investigations. However, the problem of mentally retarded and normally developing children in this age group remains virtually unexplored. Analysis of research findings allows the authors to identify and summarize the following important points: - mentally handicapped primary school children lag behind their healthy peers in all indicators examined; - 8- and 9-year-olds have less developed practical spatial orientation skills than their older peers; - Intellectually disabled peers have underdeveloped spatial orientation skills and constructive practice, making it difficult to understand spatial relationships between objects. The experimental study of task performance revealed interesting data, which will serve as a basis for developing the necessary means, methods and conditions for the development of elementary practical orientation in mentally disabled primary schoolchildren. The authors have uncovered violations of spatial orientation and constructive praxis in normally developing and intellectually disabled children aged 8-11 years that highlight the limited and incomplete verbalization of spatial relationships of objects in intellectually disabled children. The listed errors in general are reduced to the use by mentally retarded schoolchildren of imprecise, vague spatial characteristics instead of more differentiated ones. Conclusions. Thus, the results of the conducted experimental research testify to the insufficient development of the elementary practical orientation and understanding of the spatial relationships of objects in mentally retarded children of primary school age.

Differences in pragmatic communication skills of adults with intellectual disabilities and dual diagnoses.

Pragmatics includes a set of skills related to language structure and meaning that allow the speaker to use the language appropriately and in accordance with different communication situations. The aim of this research was to determine the differences in pragmatic communication skills of adults with intellectual disabilities, dual diagnoses, and typical development, and to determine the effects of gender, age, the level of intellectual functioning and speech comprehension on their achievements on two assessment instruments. The sample included 180 adults (60 typically developing participants, 60 with intellectual disabilities, and 60 participants with dual diagnoses). We used two instruments to assess pragmatic communication skills - Communication Checklist - Adult, CC-A, and the Assessment Battery for Communication, ABaCo. In order to test the differences between the three groups of participants, we used canonical discriminant analysis. Discriminant analysis revealed two significant canonical functions. Function one (speech comprehension and the level of intellectual disability, social engagement, and paralinguistic scale) differentiates between typically developing participants and participants with dual diagnoses the most. The second canonical function (language structure, linguistic scale, paralinguistic scale, extralinguistic scale, and context scale) differentiates between participants with intellectual disabilities and participants with dual diagnoses the most. According to the results, age did not affect pragmatic achievements. Pragmatic skills are very complex, and different instruments measure different dimensions of these abilities. The results of this research lead to the conclusion that we can differentiate between the pragmatic abilities of typically developing people, people with intellectual disabilities, and those with dual diagnoses with the help of the ABaCo battery and the CC-A questionnaire.

Intellectual functioning and adaptive behaviour in children with Dravet syndrome: A population-based study.

To identify, on a population basis, the prevalence of intellectual disability in children with Dravet syndrome, profiles on a measure of adaptive behaviour, and factors associated with intellectual functioning and adaptive behaviour. Forty-two out of 48 children with Dravet syndrome living in Sweden, born between 1st January 2000 and 31st December 2018, underwent assessment of intellectual functioning and adaptive behaviour. Factors associated with level of intellectual functioning and adaptive behaviour were analysed. Eight-six per cent (n= 36) of the children fulfilled DSM-5 criteria for intellectual disability (29% [n= 12] mild intellectual disability, 24% [n= 10] moderate intellectual disability, 33% [n= 14] severe intellectual disability, 0% profound intellectual disability) and 93% (n= 39) had an adaptive behaviour composite more than two standard deviations below the mean. Communication was a significant weakness compared with daily living skills (p< 0.001; mean difference 95% confidence interval [CI] -8.193 to -4.092) and socialization (p= 0.001; mean difference 95% CI 6.511 to -1.775) on the Vineland Adaptive Behavior Scales, Second Edition. The only factors significantly associated with both decreased adaptive behaviour and presence of severe intellectual disability was the presence of increased autistic symptoms and younger age. Children with Dravet syndrome have a very high level of intellectual disability and almost all have significant deficits in adaptive behaviour. Greater deficits in adaptive behaviour and greater severity of intellectual disability are associated with the presence of increased autistic symptoms, highlighting the need for comprehensive neurodevelopmental assessment for all affected children. Eighty-six per cent (n=36) of children with Dravet syndrome fulfilled criteria for intellectual disability. Ninety-three per cent (n=39) of children with Dravet syndrome had significant deficits in adaptive behaviour. Communication was a significant weakness on a measure of adaptive behaviour. Increased autistic symptoms were associated with greater deficits in cognition/adaptive behaviour. Older age and earlier status epilepticus were associated with decreased adaptive behaviour.

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.

Hypomelanosis of Ito: Neurocuteneous Syndrome

A 7-year-old girl, 2nd issue of non-consanguineous parents hailing from Rajshahi got attended to our outpatient department of Pediatrics with the complaints of white patches all over the body since early infancy, poor intelligence, and speech problems. There was history of developmental delay but no history of seizures or visual problems or hearing impairment. She also had dental abnormalities. Family history was not significant. For these she treated with several oral and local antibacterial, antifungal and corticostresoid medications, but no improvement. Examination revealed symmetrical hypopigmented patches involving the trunk and upper limbs, and were following Blaschko’s lines. Anthropometry and others examination were normal. The hearing assessment was normal. There were no ocular abnormalities but have delayed dentation with mal-alignment of teeth with carries. She have moderate level of intellectual disability (ID). Our diagnosis was hypomelanosis of Ito (HI); a rare type of neurocuteneous syndrome. Routine investigations were normal, CT scan of the brain showed mild cortical atrophy, EEG was normal. The parents were counseled about the recent level of intellectual functioning, asked to allow the child for learning self-help skills, and referred to a child development center, child psychologist, and speech therapist. Our patients were well and no complications were observed till writing this report. We like to share our experience of diagnosing and treating this very rare disease of HI. KYAMC Journal Vol. 13, No. 02, July 2022: 120-123

Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication

BackgroundNeurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1.MethodsSSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n = 28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6 Hz, 10 Hz, and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson’s correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioral problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n = 8) with paired t-tests.ResultsWe observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioral problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6 Hz) was rescued with the intake of psychostimulant medication.ConclusionsImpaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1.

Cognitive predictors of Social processing in congenital atypical development.

According to current accounts of social cognition, the emergence of verbal and non-verbal components of social perception might rely on the acquisition of different cognitive abilities. These components might be differently sensitive to the pattern of neuropsychological impairments in congenital neurodevelopmental disorders. Here, we explored the association between social and non-social cognitive domains by administering subtests of the NEPSY-II battery to 92 patients with Intellectual and Developmental Disability (IDD). Regardless the level of intellectual functioning and presence of congenital brain malformations, results revealed that visuospatial skills predicted emotion recognition and verbal component of Theory of Mind, whereas imitation predicted the non-verbal one. Future interventions might focus on spatial and sensorimotor abilities to boost the development of social cognition in IDD.

Estimation of premorbid intelligence: Demographical and current neurocognitive functioning based algorithms.

Establishing a premorbid level of intellectual functioning is crucial for determining the severity level of impairment and prognosis for patients in clinical setting. Therefore, the study aimed to develop a method to estimate premorbid IQ of Hindi speaking Indian population. A Hindi vocabulary test was developed (N=60) and standardized (N=100). The regression algorithm has been developed using VAIS, WAPIS, RPMT, and a newly developed Vocabulary test, and validated on 100 normal individuals and on 39 brain injury patients. The estimated premorbid Verbal IQ and performance IQ equation was developed by using demographic variables combine with Hindi vocabulary scores and Matrix Reasoning raw scores respectively. Both the estimated premorbid verbal and performance IQ were found to be significant and valid in estimating verbal and performance IQ in normal and brain injury population. These equations for estimating verbal and performance IQ were found significantly accurate in predicting verbal and performance IQ.

Understanding the heterogeneity of anxiety in autistic youth: A person-centered approach.

The present study aimed to examine anxiety profiles among children and adolescents on the autism spectrum. It further aimed to characterize the association between the identified anxiety profiles and key clinical and developmental variables. The Spence Children's Anxiety Scale-Parent Version (SCAS-P) data from a large international pooled sample of 870 caregivers of autistic children and adolescents (Mage =11.6 years, SDage =2.77; 107 females) was used. Latent profile analysis identified a three-anxiety profile solution exhibiting high entropy (0.80) and high latent profile probabilities, with good classification accuracy. Identified profiles fell along the severity spectrum and were named as the mild (n=498), moderate (n=272) and severe (n =100) anxiety profiles. There were no statistically significant differences between the three anxiety profiles in terms of sex distribution. Participants in the mild profile were significantly younger than those in the severe profile, had significantly fewer social communication difficulties than youth in the moderate anxiety profile group and had significantly fewer restricted and repetitive behaviors and lower cognitive functioning scores compared to participants in moderate and severe anxiety profiles. This is the first study to move beyond identifying associations and group-level differences to exploring and identifying characteristics of anxiety-based subgroups at an individual level that differ on key clinical and developmental variables. The subgroups identified in this study are a preliminary, yet important, first step towards informing future assessment and individualized interventions aiming to support young people on the autism spectrum to reduce and manage anxiety. LAY SUMMARY: This study tried to understand if there are subgroups of autistic young people who may have similar anxiety profiles. We found that we could meaningfully group young people into three groups based on how severe the anxiety symptoms their caregivers reported were: a group with low levels of anxiety, those with moderate anxiety, and those with more severe anxiety. We also found that the young people in the mild group were younger, had fewer autism traits and lower levels of intellectual functioning than young people in the other two groups.

Students With Mild Intellectual Disability at the Turn of the 20th Century in Hungary

Initial attempts to conceptually define intellectual disability have played a significant role in the history of education of children with intellectual disabilities. In Hungary, the definition of intellectual disability has undergone many changes, which is related to disciplinary development. Nowadays, in special education, the term “intellectual disability” refers to a complex phenomenon which is reflected, for example, in the significant variability on the level of intellectual functioning. This study focuses on a narrower area of this very complex phenomenon. It makes children with mild intellectual disability – one of the categories of people with intellectual disabilities, the subject of analysis. The research analyzes the contemporary professional terminology and classification of mild intellectual disability on the basis of primary sources. It also examines whom and according to what symptoms professionals classified as a member of this student population, taking into account the scientific conceptions at the turn of the 20th century (for the naming of children with mild intellectual disability, see pp. 19–20). In pedagogical narratives published at that time, the term “weak- talented child” was the most commonly used expression.

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.

Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome

BackgroundThe 22q11.2 Deletion Syndrome (22q11DS) is associated with language deficits and weak intellectual functioning. In other clinical groups, linguistic and cognitive difficulties have been associated with impaired acquisition of narrative abilities. However, little is known about the narrative abilities of children with 22q11DS. AimsTo describe the ability of children with 22q11DS to produce and comprehend narrative macrostructure. Additionally, to examine the role of intellectual functioning in explaining their narrative difficulties. Methods and proceduresNarrative skills of 14 school-aged children with 22q11DS were compared to those of younger typically developing (TD) children matched on mental age and same-aged peers with Developmental Language Disorder (DLD). Outcomes and resultsChildren with 22q11DS had significantly lower scores on narrative comprehension than younger TD children. No significant differences emerged on narrative production. Children with 22q11DS and children with DLD did not differ significantly on any of the narrative measures. Conclusions and implicationsNarrative comprehension in children with 22q11DS seems more affected than production. Narrative comprehension difficulties cannot be entirely explained by a low level of intellectual functioning. Narrative comprehension and production abilities in 22q11DS require further consideration.

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

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

Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome

SATB2‐associated syndrome (SAS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the SATB2 gene, and is typically characterized by intellectual disability and severely impaired communication skills. The goal of this study was to contribute to the understanding of speech and language impairments in SAS, in the context of general developmental skills and cognitive and adaptive functioning. We performed detailed oral motor, speech and language profiling in combination with neuropsychological assessments in 23 individuals with a molecularly confirmed SAS diagnosis: 11 primarily verbal individuals and 12 primarily nonverbal individuals, independent of their ages. All individuals had severe receptive language delays. For all verbal individuals, we were able to define underlying speech conditions. While childhood apraxia of speech was most prevalent, oral motor problems appeared frequent as well and were more present in the nonverbal group than in the verbal group. For seven individuals, age‐appropriate Wechsler indices could be derived, showing that the level of intellectual functioning of these individuals varied from moderate–mild ID to mild ID‐borderline intellectual functioning. Assessments of adaptive functioning with the Vineland Screener showed relatively high scores on the domain “daily functioning” and relatively low scores on the domain “communication” in most individuals. Altogether, this study provides a detailed delineation of oral motor, speech and language skills and neuropsychological functioning in individuals with SAS, and can provide families and caregivers with information to guide diagnosis, management and treatment approaches.