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Background: The aim of this study was to test the usefulness of the Cognitive and Language scales Bayley-III in the early assessment of cognitive and language functions in the context of an autism spectrum disorder (ASD) diagnosis. This paper focuses on the application of the Bayley-III and studies the predictive value of the test result in children with ASD with different levels of verbal ability. Method: A sample of 135 children (121 boys, 14 girls) with a confirmed ASD diagnosis at age 4 years were assessed with the Bayley-III before 42 months of age (m = 36.49, s = 4.46) and later with other rating scales of different psychological and psycholinguistic functions as part of a longitudinal study ["McCarthy Scales of Children's Abilities" (MSCA) (n = 48, 90% boys), "Kaufman Assessment Battery for Children" (K-ABC) (n = 38, 87% boys) or "Illinois Test of Psycholinguistic Abilities" (ITPA) (n = 44, 89% boys)]. Age assessment in months: MSCA (m = 48.80, s = 3.33), K-ABC (m = 51.80, s = 7.17) and ITPA (m = 54.48, s = 3.34). Results: Lower scores on the cognitive and language Bayley-III scales before 3.5 years of age predicted lower cognitive and oral language levels at 4 years of age. A significant correlation was found between the Cognitive Bayley-III Scale and the General Cognitive MSCA Scale, and with the Compound K-ABC Mental Processing. An association between the nonverbal cognitive level and oral language level acquired at 4 years of age was found. Conclusions: The Bayley-III is a useful instrument in cognitive and language assessment of ASD.

Williams-Beuren syndrome (WBS) is a genetically determined neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes on chromosome band 7q11.23. During the past few years, researchers and clinicians have significantly contributed to define the phenotype of the syndrome, including its cognitive and behavioral aspects. However, it is not well known yet whether the psychological problems are specific to the syndrome or secondary to the intellectual disability (ID). The aim of our study was to better define the psychopathological profile of WBS and whether or not it is related with IQ or anxiety symptoms. Twenty-five subjects (12 girls, 13 boys) with a diagnosis of WBS were compared to 27 boys with Fragile X Syndrome and to 24 boys with ID of non-specific etiology using the Child Behavior Checklist. Anxiety, depression and attention problems were the main behavioral problems found in WBS with no gender differences. Significant differences between cohorts were observed in somatic complaints, delinquent behavior, aggressive behavior, and externalizing problems. Some associations between IQ and anxiety items were found. The findings are discussed in terms of behavioral phenotypes, genetic implications and ID. (Contains 5 tables.)

Fragile X syndrome (FXS) causes intellectual disability and is the known leading cause of autism. Common problems in FXS include behavior and social problems. Along with syndromic characteristics and autism comorbidity, environmental factors might influence these difficulties. This systematic review focuses on the last 20 years of studies concerning behavior and social problems in FXS, considering environmental and personal variables that might influence both problems. Three databases were reviewed, leading to fifty-one studies meeting the inclusion criteria. Attention deficit hyperactivity disorder (ADHD) problems remain the greatest behavior problems, with behavioral problems and social competence being stable during the 20 years. Some developmental trajectories might have changed due to higher methodological control, such as aggressive behavior and attention problems. The socialization trajectory from childhood to adolescence remains unclear. Comorbidity with autism in individuals with FXS increased behavior problems and worsened social competence profiles. At the same time, comparisons between individuals with comorbid FXS and autism and individuals with autism might help define the comorbid phenotype. Environmental factors and parental characteristics influenced behavior problems and social competence. Higher methodological control is needed in studies including autism symptomatology and parental characteristics. More studies comparing autism in FXS with idiopathic autism are needed to discern differences between conditions.

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis., Competing Interests: The authors have declared that no competing interests exist.

Girls with Fragile-X-Syndrome (FXS) present high levels of social anxiety, social avoidance, extreme shyness, tendency to social isolation, poor eye contact, learning difficulties, and depression. The aims of the present study, which is based on a group of young females with FXS are: 1) to analyze the possible associations between emotion recognition, theory of mind, and social anxiety, and adaptive behavior, and emotional state; 2) to study the relationship between intelligence quotient (IQ) and adaptive behavior; and 3) to assess whether social anxiety is more prevalent in girls with FXS. The study has 40 female participants aged between 7 and 16 years (26 positive full mutation FXS and 14 as a control group). A neuropsychological assessment was conducted using the following tests: WISC-V, NEPSY-II, SENA, ADHD Rating Scale, BAS, and ABAS-II. In comparison with the control group, the group with FXS presented a greater association between IQ and self-direction ability, and between emotion recognition and leadership. The FXS group presented higher levels of social anxiety and shyness. In the group of girls with FXS, IQ may have prognostic value for both self-direction ability and social adaptation level.

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7-16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.

Rare diseases (RDs) as a whole affect a huge number of individuals although each specific condition comprises a low number of individuals. As a consequence, funds allocated to expand research to all conditions are often limited. Several initiatives have emerged to invest more resources for research in RDs, but patients express unmet needs regarding educational initiatives, awareness support, and psychosocial resources. We developed an educational training program in the format of weekly sessions covering basic medical scientific knowledge and psychosocial aspects of RDs. The aim of this initiative was to assess its overall impact regarding knowledge, psychological issues, and participant satisfaction. Items were evaluated through surveys before and after the sessions. Here, we report the experience and impact of two editions of this initiative with a total of 37 participants. Our results show improvements in knowledge and better management of the psychological impact. Moreover, participants were able to exchange experiences and concerns, most of which were shared even though the RDs were different. Overall, the program was evaluated by the participants as a highly beneficial experience and all of them were interested in attending advanced editions., (© 2020 National Society of Genetic Counselors.)

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. The objective of this research is to analyze the relationship between linguistic functions and performance of the following neuropsychological functions: executive, quantitative reasoning, social perception, behavior, social skills, and adaptive behavior. A neuropsychological and behavioral evaluations were carried out with a group of 26 girls with FXS, and 14 girls without FXS as a control group, using standardized tests. The two groups were homogeneous in age and IQ. Significant differences were found between groups in the relationship between some language processes: inhibition, auditory working memory, cognitive flexibility, level of social adaptation, self-direction, conceptual adaptation, academic skills, leadership ability, theory of mind, and arithmetic. In the group of girls with FXS, it was found that different aspects of language influence some of the executive functions evaluated, in addition to some specific aspects of social perception, adaptive behavior, and quantitative reasoning, in different ways. Future research should incorporate the study of the influence of other cognitive variables such as visual perception and executive function on behavioral, social, and adaptive aspects to know the real influence of all the cognitive variables on the behavior of girls with FXS., (© 2021 Wiley Periodicals LLC.)

Introduction: The aim of this study is to describe the relationship between executive function (EF) and performance in different areas of the neurocognitive profile in young girls with Fragile-X-Syndrome (FXS)., Method: A neuropsychological assessment was carried out to 40 female participants aged 7-16 years (26 FXS, 14 control group)., Results: Regarding intellectual ability, in the group of girls with FXS 3.84 % of the participants obtained IQ scores in the range of moderate ID (IQ 35-40 to 49), 46.15 % in the range of mild ID (IQ 50-70), 38.46 % in the borderline range (IQ 70-85), and 11.53 % within the average range (IQ > 85). EF was found to have a greater influence on adaptive behavior, arithmetic ability, theory of mind, leadership, social integration, social competence, and anxiety/shyness in the group with FXS., Conclusions: In girls with FXS, EF showed a greater influence on adaptive behavior, arithmetic ability, and social domain., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates. This finding suggests that problems with social interaction and communication in the group of girls with FXS could lead to difficulties in interpreting social signals and identifying situations of bullying correctly, placing them in a very vulnerable situation.

Introduction: The 22q11 deletion syndrome (S22q11) is one of the most prevalent genetic disorders, resulting in multiple systemic and neuropsychological features., Aim: To describe the language profile in a sample of Spanish subjects with S22q11., Patients and Methods: A sample of 30 Spanish participants with S22q11 aged between 5 years and 21 years and 11 months (mean: 12.14 ± 4.20 years) was evaluated using standardized tests and a questionnaire administered to parents., Results: Almost half of the subjects obtained better results in expressive language than in comprehensive language and the majority obtained a higher score in language content than in language memory. The results suggest that people with S22q11 present language difficulties that improve with age to a certain level and subsequently stabilize. A specific profile is observed that suggests that pragmatic difficulties are a consequence of this language profile and not only of social difficulties already described in this pathology., Conclusions: In the sample of the present study, children and young people with S22q11 present specific language and pragmatic disorders. More than half of the study participants did not obtain significant differences between the level of expressive and receptive language. Most presented semantic fluency difficulties. The type and degree of impairment in pragmatic skills suggest that the basic problem may be related to their language difficulties.

Introduction: The 22q11 deletion syndrome (S22q11) is a genetic disorder caused by the loss of a fragment of the chromosome 22. The clinical manifestations associated with the syndrome are diverse, including learning difficulties and alterations in voice, speech and language. However, to date we have not found any study that evaluates these aspects in the Spanish population with S22q11., Patients and Methods: We evaluate the voice and speech of a sample of 10 boys and 7 girls, aged 3 years and 3 months to 13 years and 9 months old (mean age: 9,4 ± 3,5 years old) with S22q11, with voice recordings and a phonological and phonetic evaluation. Also, semistructured type interview is administered to parents., Results: Most children of our series, both male and female, with S22q11 have a deeper voice than expected by gender and age, except for male children over 12 years. In terms of intensity, all of them are within the parameters of normality in spontaneous conversation. Almost all of them showed alterations in voice quality, mainly due to hypernasality. Regarding the speech, there are major difficulties in the articulation of fricatives, affricates and vibrant rhotic consonant clusters + /r/. Likewise, children, especially the youngest ones, make use of glottal stops to replace consonants., Conclusions: In the studied sample, most of the children with S22q11 have specific voice and speech alterations.

Background: Fragile X Syndrome (FXS) and Down Syndrome (DS) are common causes of Intellectual Disability (ID). Mothers of individuals with FXS sometimes have the premutation condition which makes them display neurocognitive signs, such as impulsiveness impairments, while mothers of DS individuals, as a group, do not have impairments. Although behavior problems in individuals with ID may be related to high Expressed Emotion (EE) in parents, parenting in families with ID members has been little explored., Aim: To explore the relationship between a mother's EE and impulsiveness, in mothers of individuals with FXS and DS, with behavior problems in their offspring., Method: A questionnaire was developed to collect data about impulsiveness and EE in mothers, along with information about behavior problems in ID individuals., Results: EE scores were associated with behavior problems in their offspring for both samples. Mothers with the premutation showed higher scores in EE than mothers of DS individuals. However, impulsiveness scores were not different between both parental groups, and were related to EE scores., Conclusions: EE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals., (Copyright © 2018. Published by Elsevier Ltd.)

To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than the American sample for all of the higher-order factors and half of both the empirically based and Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales. In contrast, analyses based on country-specific T-scores indicated that the distribution for the Spanish sample was significantly higher than for the American sample only on the Social Problems scale. No gender differences were found. Genetic and cultural influences on children's behavior and cultural influences on parental ratings of behavior are discussed.

Background: Language disorder (LD) is a neurodevelopmental disorder, and early diagnosis has an impact on speech therapy practice. The aim of this work is to test the usefulness of the Cognitive and Language scales of the Bayley-III in the early diagnosis of LD., Method: In a longitudinal study, a clinical sample of 187 children with diagnostic hypothesis of communication disorders at 4.5 years was assessed with the Bayley-III before age 3.5 years and subsequently with other scales of different psychological and psycholinguistic functions., Results: The results indicate that children with LD scored significantly lower than their control groups in all subtests and compounds of the Bayley-III. Additionally, low scores on the Language composite in the Bayley-III predicted lower scores in the Auditory-vocal Channel of the ITPA. A significant correlation was obtained between the Cognitive Scale of the Bayley-III and the General Cognitive Scale of the MSCA and the Mental Processing Composite of the K-ABC., Conclusions: We can draw the conclusion that the Cognitive and Language scales of the Bayley-III are a useful instrument for early diagnosis of LD, and can also discriminate more severe forms of LD.

Introduction: Angelman syndrome (AS) is a genetically-based disorder that is characterised by a physical and behavioural phenotype. Additionally, it presents a number of different systemic conditions that must also be taken into account. To evaluate the symptomatic spectrum of AS, we sought the aid of families linked to AS associations by sending them a questionnaire designed to investigate the clinical characteristics of AS., Patients and Methods: The families were sent a questionnaire aimed at determining the medical and behavioural characteristics of AS. Results from 68 patients were analysed., Results: The mean age at diagnosis was 4.8 years. The first symptoms that called parents' attention were feeding problems, followed by gastroesophageal reflux and hypotonia. The mean age at which patients were capable of maintaining a sitting posture was 18 months, while autonomous walking was not achieved until 43 months. Epilepsy, which was present in 91% of cases, began with febrile seizures in 55% of patients. In this study we found that a high percentage of patients with AS have a high resistance to pain (67%), a very common symptom in Prader-Willi syndrome, but little known in AS., Conclusions: This study offers a wide array of information about the clinical spectrum of AS obtained from an extensive populational sample. Some highly prevalent clinical aspects, such as the relative insensitivity to pain, have not been reported in previous publications as a symptom that is typical of AS.

Introduction: Fragile X syndrome (FXS) reveals itself as dysmorphic stigmata, systemic manifestations, neurological symptoms and cognitive-behavioural manifestations. Mental retardation (MR) and attention deficit hyperactivity disorder (ADHD) nearly always appear as examples of this last case, but most patients also present a series of fairly common behavioural characteristics. The most characteristic types of conduct seen in FXS include: language problems, lack of attention, hyperactivity, anxiety, shyness, behavioural problems, stereotypical hand flapping, gaze aversion, obstinacy and aggressiveness., Aims: The purpose of this work is to determine which behavioural aspects of the syndrome are linked to the genetic specificity and are not, therefore, determined by MR and ADHD., Patients and Methods: Three groups of patients were compared: 30 children diagnosed as suffering from FXS, 30 children with MR caused by diverse aetiologies and 323 children diagnosed as suffering from ADHD., Results: It was found that there were no significant differences between the IQ and the age of the FXS and MR groups. To determine the behavioural characteristics of the three groups the parents of the patients answered Achenbach's CBCL/4-18 survey., Conclusions: The results obtained show that certain types of conduct that are very typical of FXS are represented significantly more frequently in the FXS group than in the groups of patients with MR and ADHD. This behaviour includes: timidity, attachment to adults, shyness, repetition of certain actions over and over again, pronunciation and speech problems, fear of animals, situations or places, and concern for tidiness and cleanliness. These findings lend support to the idea that the behavioural phenotype of FXS is linked to the genetic disorder and is not, therefore, a consequence of MR or ADHD.

Fragile X syndrome is the first cause of hereditary mental retardation. Numerous studies have approached the physical and behavioural phenotypes. This paper will review the main characteristics of speech and language in children with fragile X syndrome. Boys show a late language acquisition, differing comprehension and expression levels, good semantic and syntax acquisition, and speech problems: perseverance, unequal rythm and pragmatic difficulties: respect for conversation turns, speech maintenance, active avoidance of visual contact. A lesser degree of speech problems is described for FXS girls and the influence of social anxiety and hypersensitivity to social and sensorial stimuli on language production is discussed.

There is still no medication for fragile X syndrome (FXS) which acts directly on the genetic mechanisms or on the immediate result of the genetic defect. However, behavioral and cognitive manifestations can be approached from both the psychological/educational and pharmacological sides. Both approaches are not mutually exclusive but are complementary and synergic. There are currently potent drugs which can improve important symptoms of the FXS, behavioral disorders, hyperactivity, attention deficit, obsessive disorders and anxiety. Pharmacological treatment can be useful: CNS stimulants, clonidine, folic acid, serotonin reuptake inhibitors, and atypical antipsychotics. Pharmacological treatment of epilepsy is needed whenever epilepsy occurs. There is no specific antiepileptic for FXS, so action must be taken with the most efficient antiepileptic according to the crisis type, evaluating tolerance and possible effects on behavior. Insomnia is also of interest in children with FXS. In this case the use of melatonin can be of great help.