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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.

Síndrome de Angelman; Fenotipo Síndrome d'Angelman; Fenotip Angelman syndrome; Phenotype 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. This work is supported by Instituto de Salud Carlos III (MG, PI16/01411), Asociación Española de Síndrome de Angelman (EG), Institut d’investigació i innovació Parc Taulí I3PT (CA, CIR2016/025, CIR2018/021) and Ministerio de Economía y Competitividad (XD, SAF2016-14 80255-R). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

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.

Comportamiento adaptativo; Escuela; Niñas Comportament adaptatiu; Escola; Nenes Adaptive behavior; School; Young females 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. The study was awarded two scholarships by the “Parc Tauli Foundation”: (1) Financial assistance to cover part of the travel expenses (transportation and accommodation). Grant number: 2018.0035; (2) “Intensifica’t al Tauli” Scholarship: grant program for the institutions’ healthcare professionals who led research projects. This financial assistance partially frees them from their professional activity for a period of 12 months so that they can make a greater commitment to research. Grant number: 2020.0081.

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.

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. Débora Pérez-García was supported by a predoctoral fellowship from Instituto de Salud Carlos III (FI11/00656). Data collection for the Spanish sample was supported by grants from the Spanish Ministries of Science, Economy & Competitivity (SAF04/6382 & PI13/02481) and the European Community (EC-FP6-37627) to Luis A. Pérez-Jurado. Data collection for the US sample was supported by grants from the National Institute of Child Health and Human Development (R37 HD29957) and the National Institute of Neurological Disorders and Stroke (R01 NS35102) to Carolyn Mervis. Data analysis and manuscript preparation were supported by NICHD grant R37 HD29957 and grant WSA 0104 from the Williams Syndrome Association to Carolyn Mervis

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.

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.

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.

Introduccion. El sindrome de delecion 22q11 (S22q11) es uno de los trastornos geneticos mas prevalentes, y presenta multiples alteraciones sistemicas y neuropsicologicas. Objetivo. Describir el perfil de lenguaje y pragmatica asociado a este sindrome. Pacientes y metodos. Se evaluo una muestra de 30 participantes espanoles con S22q11 de edades comprendidas entre 5 anos, y 21 anos y 11 meses (media: 12,14 ± 4,2 anos) mediante pruebas estandarizadas y un cuestionario administrado a los padres. Resultados. Casi la mitad de la muestra obtuvo mejores resultados en el lenguaje expresivo que en el comprensivo, y la mayoria logro una mayor puntuacion en el contenido del lenguaje que en la memoria del lenguaje. Los resultados sugieren que las personas con S22q11 presentan dificultades de lenguaje que mejoran con la edad hasta cierto nivel y, posteriormente, se estabilizan. Se observa un perfil especifico que sugiere que las dificultades pragmaticas son consecuencia de este perfil de lenguaje y no solo de dificultades sociales ya descritas en esta patologia. Conclusiones. En la muestra del presente estudio, los ninos y jovenes con S22q11 presentan alteraciones especificas del lenguaje y la pragmatica. Mas de la mitad de los participantes del estudio no obtuvieron diferencias significativas entre el nivel de lenguaje expresivo y el receptivo. La mayoria presento dificultades de fluencia semantica. El tipo y el grado de las alteraciones que presentan en las habilidades pragmaticas sugieren que el problema basico podria estar relacionado con sus dificultades linguisticas.

Internationally adopted children seem to be more likely to show ADHD-like symptoms than non-adopted children. The aims of this study were to explore the existence of ADHD-like symptoms and/or diagnosis in a sample of internationally adopted children depending on their country of origin and to describe the links that may exist between the display of these symptoms and observed narrative-based attachment patterns. A Catalan sample of 58 adopted children aged 7-8 (24 from Eastern Europe, 23 from China, and 11 from Ethiopia) was assessed with the Behavioral Assessment System for Children to identify ADHD-like symptoms, and the Friends and Family Interview to identify children's' attachment patterns. Results indicated that children adopted from Eastern Europe showed a trend toward more hyperactivity and significantly more attention problems than girls adopted from China. Children with a secure attachment showed significantly less attention problems and a trend toward less hyperactivity. More studies focusing on the etiology and treatment of these symptoms in adopted children are needed.

The attachment pattern of a sample of 168 internationally adopted children was explored in this study using the semi-structured Friends and Family Interview. The pattern was analysed in relation to the development of adaptive skills as an expression of the children's resilience. The secure attachment pattern rates were slightly lower and the insecure attachment patterns were considerably higher than those of normative samples from the previous studies. The children from Eastern Europe demonstrated a more insecure attachment pattern (odds ratio [OR]= 2.46; confidence interval [CI]= 1.23–3.94), and their scores on the adaptive skills scales were lower than the scores of children from other countries (OR = 2.62; 95% CI = 1.02–6.72). These results help to identify the groups at risk of failing to develop secure attachment patterns and appropriate adaptive skills, and should provide valuable information for designing effective interventions.

The aim of this study is to analyze the social relationships from a sample of 116 internationally adopted children aged 8–11, considering the following factors: relationship with parents, interpersonal relationships, and social stress. In comparison with previous researches, we have used the child as the informant. These factors are explored depending of the attachment pattern of the child, the country of origin, sex and age at adoption. The attachment pattern is explored with the semi-structured Friends and Family Interview (FFI; Steele and Steele, 2005 ) and the social relationships have been assessed with the Behavior Assessment System for Children (BASC; Reynolds & Kamphaus, 1992 ). Results show significant differences in the attachment pattern depending on the countries of origin and the impact of the secure attachment pattern over the interpersonal and parental relationships of the children is highlighted. Research helps us to identify the groups that are at risk in developing a secure attachment pattern and in developing their skills for social relationships.

Introduccion. El sindrome de delecion de 22q11 (S22q11) es un trastorno genetico causado por la perdida de un fragmento del cromosoma 22. Las manifestaciones clinicas que presenta quien lo padece son diversas, incluyendo dificultades del aprendizaje y alteraciones de la voz, el habla y el lenguaje. No obstante, hasta ahora no hemos encontrado ningun estudio que evalue estos aspectos en la poblacion espanola con el S22q11. Pacientes y metodos. Se evalua la voz y el habla de una muestra de 10 ninos y 7 ninas, de 3 anos y 3 meses a 13 anos y 9 meses (edad media: 9,4 ± 3,5 anos), con el S22q11, a traves de registros de voz y de una prueba de evaluacion fonologica y fonetica. Ademas, se realiza una entrevista semiestructurada a los padres. Resultados. La mayoria de los ninos y las ninas con el S22q11 tienen una voz mas grave de lo esperable por su sexo y edad, a excepcion de los ninos varones con mas de 12 anos. En cuanto a la intensidad, todos ellos se encuentran dentro de los parametros de normalidad en la conversacion espontanea. Todos presentan alteraciones del timbre, principalmente por hipernasalidad. Respecto al habla, hay mayores dificultades en la articulacion de las fricativas, las africadas, la rotica vibrante (/r/) y los grupos consonanticos + /r/. Asimismo, los ninos, sobre todo los mas pequenos, utilizan las oclusivas gloticas para sustituir consonantes. Conclusiones. En la muestra estudiada, la mayoria de los ninos con el S22q11 presenta alteraciones especificas tanto de la voz como del habla.

The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/ VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features. s 2006 Wiley-Liss, Inc.

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.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.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.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.

Williams–Beuren syndrome (WBS) is a genetically defined neurodevelopmental disorder presenting with intellectual disability associated with a specific neurocognitive profile characterized by anxiety, hypersociability, poor visuospatial skills and relatively preserved language. We have defined the lateral preference in 69 individuals (40 males and 29 females, age range 5–47 years) with WBS confirmed by molecular testing, and explored its correlation with cognition, behavior problems, the main aspects of the behavioral phenotype, and specific molecular variants (parental origin and size of the 7q11.23 deletion). Lateral preference (hand, foot, eye and ear) and neurobehavioral features [intelligence quotient (IQ), sociability, visuospatial construction, narrative skills and behavior] were assessed by a battery of tests and parental interviews. A large proportion of WBS individuals showed either left or mixed handedness (26 and 19 %, respectively). Hand, foot and ear lateral preference showed significant association with IQ, with individuals with mixed lateral preference presenting lower general IQ, especially verbal IQ, with respect to subjects with well-defined laterality. Approachability, visuospatial ability, behavior problems or molecular variants were not associated with lateral preference. Our results indicate that, as in other neurodevelopmental disorders, laterality is poorly defined in a significant proportion of WBS individuals, and reinforces the idea that a correct definition of lateral preference is important for cognition and language.

Estudios previos sobre menores adoptados han mostrado que los menores adoptados en Europa del Este (EE) tienen más probabilidades de mostrar inatención e hiperactividad/ impulsividad mientras que las niñas adoptadas en China (CH) suelen obtener puntuaciones normales en adaptación, aunque a medida que crecen, puede que aumenten las conductas internalizantes. Comparamos directamente las puntuaciones obtenidas en el SNAP-IV (Hiperactividad/Inatención) y el SCARED (Ansiedad) por niñas adoptadas en CH (n = 42), EE (n = 34) y en otros países (n = 32). EE muestran más inatención, hiperactividad/ impulsividad y conductas desafiantes que CH, independientemente de la edad de adopción y del número de hermanos. La edad de adopción solo tiene un efecto significativo sobre las conductas desafiantes. No se observan diferencias significativas en ansiedad entre los grupos. En general, los niveles de ansiedad están relacionados con la hiperactividad/impulsividad. Factores específicos relacionados con la adopción en cada una de estas regiones podrían explicar parte de las diferencias en inatención, hiperactividad/inatención y conductas desafiantes y se deberían tener en cuenta para potenciar la adaptación de los adoptados. Previous research looking at adopted children has shown that children adopted from Eastern Europe (EE) are more likely to show inattention and hyperactivity/impulsivity whereas girls adopted from China (CH) tend to have normative adjustment scores, although as they grow up, internalising behaviours might increase. We directly compare parental ratings of the SNAP-IV (Hyperactivity/Inattention) and SCARED (Anxiety) of girls adopted from CH (n = 42), EE (n = 34) and other countries (n = 32). EE were more likely to show inattention, hyperactivity/impulsivity and defiant behaviours than CH, independent of age at adoption and number of siblings. The age of the child only had a significant effect on defiant behaviours. No significant differences in anxiety were observed between groups. Overall anxiety levels were related to hyperactivity/impulsivity. Specific factors related to adoption in each region might account for differential levels in inattention, hyperactivity/impulsivity and defiant behaviours and should be taken into account to aid the adjustment of adoptees.

Higher rates of ADHD symptoms have been observed among internationally adopted children but these symptoms seem to be even more frequent among children adopted from Eastern European countries. Therefore, the aims of this study were to compare the presence of ADHD symptoms in a sample of children adopted from Eastern Europe with a sample of children adopted from other regions and also to examine the influence of selected personal and family factors in the display of these symptoms. Ninety-three children adopted from Eastern Europe were assessed with the Swanson, Nolan, and Pelham‐IV ( SNAP-IV ) scale and their scores were compared with the scores of 115 children adopted from other regions. Children adopted from Eastern Europe showed more ADHD symptoms than children adopted from other regions. Being a girl was a protective factor for the Hyperactivity/impulsivity scale and older children were more likely to show inattention. However, the reasons why these symptoms are more frequent in children adopted from Eastern Europe are still uncertain: the interaction between the stories and characteristics of the adopted child and adoptive parents should be further explored in order to best help these children to adapt to their new family and society.

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.

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.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.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.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.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.

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.

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.