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1.
Eur Eat Disord Rev ; 32(3): 589-605, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38308450

RESUMO

OBJECTIVE: The DSM-5 classification introduced new Feeding and Eating Disorders (FED) diagnostic categories, notably Avoidant and Restrictive Food Intake Disorder (ARFID), which, like other FED, can present psychiatric and gastrointestinal symptoms. However, paediatric clinical research that focuses on children below the age of 12 years remains scarce. The aim of this study was first to investigate the clinical features of FED in a cohort of children, second to compare them according to their recruitment (gastroenterology or psychiatry unit). METHOD: This non-interventional retrospective cohort study analysed 191 patients in a French paediatric tertiary care centre (gastroenterology n = 100, psychiatry n = 91). The main outcome variables were clinical data (type of FED, BMI, nutritional support, chronic diseases, psychiatric comorbidities, sensory, sleep, language disorders, gastrointestinal complaints, adverse life events, family history). The outcome was defined by a Clinical Global Impression of Change-score. RESULTS: FED diagnoses were ARFID (n = 100), Unspecified FED (UFED, n = 57), anorexia nervosa (AN, n = 33) and one pica/rumination. Mean follow-up was 3.28 years (SD 1.91). ARFID was associated with selective and sensory disorders (p < 0.001); they had more anxiety disorders than patients with UFED (p < 0.001). Patients with UFED had more chewing difficulties, language disorder (p < 0.001), and more FED related to chronic disease (p < 0.05) than patients with ARFID and AN. Patients with AN were female, underweight, referred exclusively to the psychiatrist, and had more depression than patients with ARFID and UFED (p < 0.001). The gastroenterology cohort included more UFED, while the psychiatry cohort included more psychiatric comorbidities (p < 0.001). A worse clinical outcome was associated with ARFID, a younger age at onset (p < 0.001), selective/sensory disorders and nutritional support (p < 0.05). CONCLUSION: ARFID and UFED children were diagnosed either by gastroenterologists or psychiatrists. Due to frequently associated somatic and psychiatric comorbidities, children with FED should benefit from a multidisciplinary assessment and care.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Gastroenterologia , Humanos , Feminino , Criança , Masculino , Estudos Retrospectivos , Estudos de Coortes , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos de Sensação , Ingestão de Alimentos
2.
Artigo em Inglês | MEDLINE | ID: mdl-37891412

RESUMO

The two most frequent early-onset restrictive food intake disorders are early-onset anorexia nervosa (EOAN) and avoidant/restrictive food intake disorders (ARFID). Although the core symptoms of EOAN (i.e., fear of gaining weight and disturbed body image) are not present in ARFID, these symptoms are difficult to assess during the initial phase of hospitalisation. Our aim was  to identify restrictive food intake disorder subtypes in children using latent class analysis (LCA) based on the information available at admission to hospital, and to determine the agreement between the subtypes identified using LCA and the final diagnosis: EOAN or ARFID. We retrospectively included 97 children under 13 years old with severe eating disorders (DSM-5) at their first hospitalisation in a specialised French paediatric unit. LCA was based on clinical information, growth chart analyses and socio-demographic parameters available at admission. We then compared the probabilities of latent class membership with the diagnosis (EOAN or ARFID) made at the end of the hospitalisation. The most parsimonious LCA model was a 2-class solution. Children diagnosed with EOAN at the end of hospitalisation had a 100% probability of belonging to class 1 while children diagnosed with ARFID had an 8% probability of belonging to class 1 based on parameters available at admission. Our results indicate that clinical and socio-demographic characteristics other than the core symptoms of EOAN may be discriminating for a differential diagnosis.

3.
Artigo em Inglês | MEDLINE | ID: mdl-34051395

RESUMO

BACKGROUND: The spatial functional chronnectome is an innovative mathematical model designed to capture dynamic features in the organization of brain function derived from resting-state functional magnetic resonance imaging data. Measurements of dynamic functional connectivity have been developed from this model to quantify the brain dynamical self-reconfigurations at different spatial and temporal scales. This study examined whether two spatiotemporal dynamic functional connectivity quantifications were linked to late adolescence-onset major depressive disorder (AO-MDD), and scaled with depression and symptom severity measured with the Montgomery-Åsberg Depression Rating Scale. METHODS: Thirty-five patients with AO-MDD (21 ± 6 years of age) and 53 age- and sex-matched healthy young participants (20 ± 3 years of age) underwent 3T magnetic resonance imaging structural and resting-state functional magnetic resonance imaging acquisitions. The chronnectome here comprised seven individualized functional networks portrayed along 132 temporal overlapping windows, each framing 110 seconds of resting brain activity. RESULTS: Based on voxelwise analyses, patients with AO-MDD demonstrated significantly reduced temporal variability within the bilateral prefrontal cortex in five functional networks including the limbic network, default mode network, and frontoparietal network. Furthermore, the limbic network appeared to be particularly involved in this sample and was associated with Montgomery-Åsberg Depression Rating Scale scores, and its progressive dynamic inflexibility was linked to sadness. Default mode network and frontoparietal network dynamics scaled with negative thoughts and neurovegetative symptoms, respectively. CONCLUSIONS: This triple-network imbalance could delay spatiotemporal integration, while across-subject symptom variability would be network specific. Therefore, the present approach supports that brain network dynamics underlie patients' symptom heterogeneity in AO-MDD.


Assuntos
Transtorno Depressivo Maior , Adolescente , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Depressão , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade
4.
J Eat Disord ; 9(1): 9, 2021 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-33423687

RESUMO

BACKGROUND: Early-onset anorexia nervosa (EO-AN) represents a significant clinical burden to paediatric and mental health services. The impact of EO-AN on bone mineral abnormalities has not been thoroughly investigated due to inadequate control for pubertal status. In this study, we investigated bone mineral abnormalities in girls with EO-AN regardless of pubertal development stage. METHOD: We conducted a cross-sectional study of 67 girls with EO-AN (median age = 12.4 [10.9-13.7 years]) after a median duration of disease of 1.3 [0.6-2.0] years, and 67 healthy age-, sex-, pubertal status- matched control subjects. We compared relevant bone mineral parameters between groups: the total body bone mineral density [TB-BMD], the lumbar spine BMD [LS-BMD], the total body bone mineral content [TB-BMC] and the ratio of the TB-BMC to lean body mass [TB-BMC/LBM]. RESULTS: TB-BMD, TB-BMC, LS-BMD and TB-BMC/LBM were all significantly lower in patients with AN compared to controls. In the EO-AN group, older age, later pubertal stages and higher lean body mass were associated with higher TB-BMC, TB-BMD, and LS-BMD values. DISCUSSION: Girls with EO-AN displayed deficits in bone mineral content and density after adjustment for pubertal maturation. Age, higher pubertal stage and lean body mass were identified as determinants of bone maturation in the clinical population of patients with EO-AN. Bone health should be promoted in patients, specifically in those with an onset of disorder before 14 years old and with a delayed puberty.

5.
Rev Prat ; 70(6): 663-666, 2020 Jun.
Artigo em Francês | MEDLINE | ID: mdl-33058615

RESUMO

Child disruptive behaviors at school. Disruptive behaviors at school are a common reason of medical consultation. Being able to cope with it constitute a major challenge for teachers and parents. We summarize the key steps of the clinical examination of children with disruptive behaviors at school. These behaviors may indicate a psychiatric disorder. We also describe the treatments for disruptive behavior disorders in children, particularly interventions based on positive reinforcement of desired behaviors. Other specific pharmacological or nonpharmacological treatments are relevant in the context of psychiatric disorders, particularly psychoeducation.


Comportements perturbateurs de l'enfant à l'école. Les comportements perturbateurs de l'enfant à l'école constituent un motif fréquent de consultation en médecine. Savoir les gérer est un enjeu éducatif et pédagogique majeur pour les parents comme pour les professeurs. Nous proposons ici une conduite à tenir pour l'exploration clinique des comportements perturbateurs en milieu scolaire. En effet, ces comportements peuvent s'inscrire dans le cadre d'un trouble psychiatrique de l'enfant. Nous décrivons aussi la prise en charge des comportements perturbateurs. Celle-ci est principalement fondée sur les interventions comportementales qui visent à augmenter des comportements favorables en milieu scolaire par la mise en place de système de récompenses de l'enfant. D'autres interventions plus spécifiques, pharmacologiques ou non pharmacologiques, sont indiquées si un trouble psychiatrique a été diagnostiqué, notamment les interventions de psychoéducation.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo , Pais , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/terapia , Criança , Humanos
6.
Rev Prat ; 70(8): 875-880, 2020 Oct.
Artigo em Francês | MEDLINE | ID: mdl-33739693

RESUMO

Early onset anorexia nervosa. Anorexia nervosa is an eating disorder of multifactorial origin. It has a serious physical and psychological impact on the functioning of the individual and the highest risk of mortality from psychiatric disorders. It is defined according to international classifications by a refusal to maintain a normal minimum weight for his age and height, an intense fear of gaining weight and a disturbance of one's body image. This pathology most often affects adolescents but can be diagnosed from the age of 8 years. In this case, it is considered as "early onset anorexia nervosa" or called "prepubescent anorexia nervosa". Its prognosis is serious, and it requires emergency medical care. Multidisciplinary ambulatory care should be favored in the absence of criteria imposing full-time hospitalization. Patient monitoring should continue for several years.


Anorexie mentale à début précoce. L'anorexie mentale est un trouble du comportement alimentaire d'origine multifactorielle, grave du fait de son impact physique et psychologique sur le fonctionnement de l'individu et du risque de mortalité le plus élevé des troubles psychiatriques. Elle est définie selon les critères des classifications internationales par un refus de maintenir un poids minimum normal pour son âge et sa taille, une peur intense de prendre du poids et une perturbation de son image corporelle. Cette pathologie touche le plus souvent l'adolescent mais peut être diagnostiquée dès 8 ans. Elle est alors considérée comme survenant « à début précoce ¼ ou dite « anorexie mentale prépubère ¼. Son pronostic est grave et sa prise en charge est une urgence médicale. Une prise en charge multidisciplinaire ambulatoire est privilégiée en l'absence de critère imposant une hospitalisation à temps complet. Le suivi du patient se poursuivra plusieurs années.


Assuntos
Anorexia Nervosa , Transtornos da Alimentação e da Ingestão de Alimentos , Adolescente , Assistência Ambulatorial , Anorexia Nervosa/diagnóstico , Anorexia Nervosa/epidemiologia , Anorexia Nervosa/terapia , Imagem Corporal , Criança , Hospitalização , Humanos
7.
Neurosci Biobehav Rev ; 103: 109-118, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31129238

RESUMO

The relationship between ADHD and suicidal spectrum behaviors (SSBs) remains uncertain. We conducted the first meta-analysis on the association between ADHD and SSBs taking possible confounders into account. Based on a pre-registered protocol (PROSPERO-CRD42018093003), we searched Pubmed, Ovid and Web of Knowledge databases through April 6th, 2018, with no language/publication type restrictions, and contacted study authors for unpublished data/information. From a pool of 2798 references, we retained 57 studies. Random-effects models were performed. Study quality was rated using the Newcastle-Ottawa Scale. After pooling crude ORs, we found a significant association between ADHD and suicidal attempts (2.37, 95% CI = 1.64-3.43; I2 = 98.21), suicidal ideations (3.53, 2.94-4.25; I2 = 73.73), suicidal plans (4.54, 2.46-8.37; I2 = 0), and completed suicide (6.69, 3.24-17.39; I2 = 87.53). Results did not substantially change when pooling adjusted ORs. Findings were also in general robust to sensitivity analyses to assess possible moderators. Awareness of the association between ADHD and SSBs should contribute to more effectively prevent SSBs.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Criança , Humanos
8.
Int J Dev Neurosci ; 71: 61-67, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30056251

RESUMO

In everyday life, our activities frequently involve the simultaneous performance of two or more tasks. Sharing attention between two concurrent tasks may result in a decrease in performance specifically among children with neurodevelopmental disorders. The objective of the study was to determine whether the influence of postural conditions (sitting condition, single task; standing condition, dual task) on eye movement performances on three visual tasks with high attentional load (visually-guided saccade task, memory-guided saccade task and fixation task) was different in children with neurodevelopmental disorders (attention deficit and hyperactive disorder, dyslexia, and high functioning autism spectrum disorder) when compared to typically developing children. One hundred and four children (26 per group, sex-age- and IQ-matched groups) were evaluated. We found that for the fixation task only, the three groups of children with neurodevelopmental disorders had poorer eye movements performances in the standing condition compared to the sitting condition while no such difference was found for typically developing children. We suggest that children with neurodevelopmental disorders have fewer attentional resources available for performing correctly oculomotor tasks with high attentional load leading to impairment of these tasks for maintaining a good level of postural stability.


Assuntos
Transtornos do Neurodesenvolvimento/complicações , Transtornos da Motilidade Ocular/etiologia , Equilíbrio Postural/fisiologia , Transtornos de Sensação/etiologia , Análise de Variância , Estudos de Casos e Controles , Criança , Feminino , Humanos , Testes de Inteligência , Masculino , Transtornos da Motilidade Ocular/diagnóstico , Estimulação Luminosa , Tempo de Reação/fisiologia , Transtornos de Sensação/diagnóstico
9.
Psychol Sci ; 28(10): 1375-1386, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28800281

RESUMO

People with attention-deficit/hyperactivity disorder (ADHD) have difficulties sustaining their attention on external tasks. Such attentional lapses have often been characterized as the simple opposite of external sustained attention, but the different types of attentional lapses, and the subjective experiences to which they correspond, remain unspecified. In this study, we showed that unmedicated children (ages 6-12) with ADHD, when probed during a standard go/no-go task, reported more mind blanking (a mental state characterized by the absence of reportable content) than did control participants. This increase in mind blanking happened at the expense of both focused and wandering thoughts. We also found that methylphenidate reverted the level of mind blanking to baseline (i.e., the level of mind blanking reported by control children without ADHD). However, this restoration led to mind wandering more than to focused attention. In a second experiment, we extended these findings to adults who had subclinical ADHD. These results suggest that executive functions impaired in ADHD are required not only to sustain external attention but also to maintain an internal train of thought.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Atenção/fisiologia , Estado de Consciência/fisiologia , Função Executiva/fisiologia , Pensamento/fisiologia , Adulto , Atenção/efeitos dos fármacos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/farmacologia , Criança , Estado de Consciência/efeitos dos fármacos , Função Executiva/efeitos dos fármacos , Feminino , Humanos , Masculino , Metilfenidato/farmacologia , Pensamento/efeitos dos fármacos , Adulto Jovem
10.
Int J Dev Neurosci ; 61: 51-57, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28684307

RESUMO

Autism, learning disabilities and attention deficit/hyperactive disorder are often comorbid disorders. In order to try and find some markers that might be transnosographic, we hypothesized that abnormal postural sway profiles may discriminate children with neurodevelopmental disorders (NDDs) from typically developing children. The aim of our study was thus to compare spatial and temporal measures of the Center of Pressure in three distinct groups of children with NDDs (high functioning autism spectrum disorders, learning disabilities (dyslexia) and attention deficit/hyperactive disorders) and in typically developing children. Postural performances were thus evaluated in 92 children (23 per group, sex-, age- and IQ-matched groups) by using the Multitest Equilibre platform (Framiral®). Two viewing conditions (eyes open and eyes closed) were tested on a stable and unstable platform. Results reported similar poor postural instability for the three groups of children with NDDs with respect to the typically developing children, and this was observed for both spatial as well as temporal analysis of displacement of the center of pressure. Such postural instability observed in children with NDDs could be due to impairment in using sensorial inputs to eliminate body sway, probably due to poor cerebellar integration.


Assuntos
Transtornos do Neurodesenvolvimento/complicações , Equilíbrio Postural/fisiologia , Transtornos de Sensação/etiologia , Comportamento Espacial/fisiologia , Percepção Visual/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Estudos de Casos e Controles , Criança , Dislexia/complicações , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/classificação , Análise Espaço-Temporal
11.
J Clin Psychiatry ; 78(6): e622-e630, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28355042

RESUMO

OBJECTIVE: To investigate whether risk factors for suicide attempts differ in children and adolescents and to categorize adulthood mental health outcomes of child and adolescent suicide attempters in the general population. METHODS: Using a large (N = 34,653), nationally representative US adult sample, the 2004-2005 National Epidemiologic Survey on Alcohol and Related Conditions, we examined whether individuals who first attempted suicide during childhood (under the age of 13 years) differ from those who first attempted suicide during adolescence (13 through 17 years) in (1) contributing factors for first suicide attempt, including mental disorders and traumatic experiences that occurred before the first suicide attempt, parental history of mental disorders, and family poverty and (2) adulthood mental health outcomes, including lifetime and current prevalence of DSM-IV psychiatric disorders and quality of life measures. RESULTS: Suicide attempts during childhood (n = 104) were more strongly related to childhood maltreatment, while suicide attempts during adolescence (n = 415) were more strongly associated with major depressive episode. Compared to first suicide attempts during adolescence, first attempts during childhood were associated with increased risk for multiple suicide attempts (61.3% vs 32.6%), several psychiatric disorders (mania, hypomania, and panic disorder), and poorer social functioning during adulthood (all P values < .05). CONCLUSIONS: Suicide attempts in children and adolescents substantially differ in contributing factors and adulthood mental health outcomes. Preventing childhood maltreatment and early intervention for psychiatric disorders may have broad benefits to reduce not only the suffering of these children and adolescents, but also the burden of suicide.


Assuntos
Sobreviventes Adultos de Maus-Tratos Infantis/estatística & dados numéricos , Filho de Pais com Deficiência/estatística & dados numéricos , Transtorno Depressivo Maior/epidemiologia , Transtornos Mentais/epidemiologia , Pais/psicologia , Pobreza/estatística & dados numéricos , Tentativa de Suicídio/estatística & dados numéricos , Adolescente , Adulto , Fatores Etários , Idoso , Criança , Transtorno Depressivo Maior/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Estados Unidos/epidemiologia , Adulto Jovem
12.
J Child Adolesc Psychopharmacol ; 27(3): 274-280, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27976935

RESUMO

BACKGROUND: There are relatively few studies of saccadic eye movements in children with attention-deficit/hyperactivity disorder (ADHD). The aim of this study was to examine inhibitory abilities of eye movements in children with ADHD and to explore the effect of methylphenidate (MPH) on eye movement performance. METHODS: Thirty-one children with ADHD (mean age 9.9 ± 0.4 years) and 31 sex-, age-, and IQ-matched children with normal development were examined. Saccades elicited not only by the gap, step, overlap, and antisaccade paradigms but also a simple fixation paradigm have been recorded using an eye tracker. The latency of each type of saccade, the error rate of antisaccades, and the number of saccades made during fixation have been measured. RESULTS: Children with ADHD and naive to treatment with respect to controls showed significantly shorter mean latency of voluntary saccades (overlap paradigm), more frequent errors during the antisaccade paradigm, and higher number of saccades made during fixation. After 1 month of MPH treatment, all these parameters changed significantly and reached control values. CONCLUSION: Taken together, these results suggest that oculomotor abilities are poor in children with ADHD, which may correlate with deficits in inhibitory mechanisms. Treatment with MPH improves oculomotor performances through adaptive strategies, which may involve brain structures related to cognitive inhibition.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Metilfenidato/uso terapêutico , Doenças do Nervo Oculomotor/complicações , Doenças do Nervo Oculomotor/tratamento farmacológico , Criança , Feminino , Fixação Ocular , Humanos , Inibição Psicológica , Masculino , Estimulação Luminosa , Desempenho Psicomotor , Movimentos Sacádicos
13.
Front Neurosci ; 10: 163, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27199629

RESUMO

HIGHLIGHTS Both spatial and temporal analyses of the Center of Pressure demonstrate that children with ADHD have poorer postural control than typically developing sex-, age-, and IQ-matched children.Poor sensory integration in postural control could partially explained the deficits in postural stability in children with ADHD.MPH treatment improves postural performance in both spatial and temporal domains in children with ADHD.MPH improves postural control specifically when visual and proprioceptive inputs are misleading.Such improvement could be due to MPH effects on neurons, facilitating cerebellar processing of postural control. The aim of this study was to examine postural control in children with ADHD and explore the effect of methylphenidate (MPH), using spatial and temporal analyses of the center of pressure (CoP). Thirty-eight children with ADHD (mean age 9.82 ± 0.37 years) and 38 sex- age- and IQ-matched children with typically development were examined. Postural stability was evaluated using the Multitest Equilibre machine (Framiral®) at inclusion and after 1 month of MPH in children with ADHD. Postural stability was assessed by recording under several conditions: with eyes open and fixed on a target, with eyes closed and with vision perturbed by optokinetic stimulation, on stable and unstable platforms. At inclusion, we observed poor spatial and temporal postural stability in children with ADHD. The spectral power index was higher in children with ADHD than in controls. Canceling time was shorter at low and medium frequencies of oscillation and longer at higher frequencies in children with ADHD. After 1 month of MPH, the surface area and mean velocity of the CoP decreased significantly under the most complex conditions (unstable platform in the absence of proprioceptive and visual inputs). The spectral power index decreased significantly after MPH while the canceling time did not change. Poor postural control in children with ADHD supports the hypothesis of cerebellar dysfunction in this disorder. Postural control could be improved by a more efficient processing of sensory inputs (a high-level process), as suggested by the decrease in spectral power index after MPH without changes in the canceling time (a low-level process).

14.
PLoS Genet ; 10(9): e1004580, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25188300

RESUMO

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Transtornos Cognitivos/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Estudos de Casos e Controles , Criança , Cognição/fisiologia , Variações do Número de Cópias de DNA/genética , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Neurônios/fisiologia , Sinapses/genética
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