[The language of children and young people with 22q11 deletion syndrome]. / Lenguaje de niños y jóvenes con síndrome de deleción 22q11.

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.

TITLE: Lenguaje de niños y jóvenes con síndrome de deleción 22q11.Introducción. El síndrome de deleción 22q11 (S22q11) es uno de los trastornos genéticos más prevalentes, y presenta múltiples alteraciones sistémicas y neuropsicológicas. Objetivo. Describir el perfil de lenguaje y pragmática asociado a este síndrome. Pacientes y métodos. Se evaluó una muestra de 30 participantes españoles con S22q11 de edades comprendidas entre 5 años, y 21 años y 11 meses (media: 12,14 ± 4,2 años) 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 mayoría logró una mayor puntuación 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 específico que sugiere que las dificultades pragmáticas son consecuencia de este perfil de lenguaje y no sólo de dificultades sociales ya descritas en esta patología. Conclusiones. En la muestra del presente estudio, los niños y jóvenes con S22q11 presentan alteraciones específicas del lenguaje y la pragmática. Más de la mitad de los participantes del estudio no obtuvieron diferencias significativas entre el nivel de lenguaje expresivo y el receptivo. La mayoría presentó dificultades de fluencia semántica. El tipo y el grado de las alteraciones que presentan en las habilidades pragmáticas sugieren que el problema básico podría estar relacionado con sus dificultades lingüísticas.

Voz y habla de los niños con síndrome de deleción de 22q11 / Voice and speech of children with 22q11 deletion síndrome

Introducción. El síndrome de deleción de 22q11 (S22q11) es un trastorno genético causado por la pérdida de un fragmento del cromosoma 22. Las manifestaciones clínicas 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 ningún estudio que evalúe estos aspectos en la población española con el S22q11. Pacientes y métodos. Se evalúa la voz y el habla de una muestra de 10 niños y 7 niñas, de 3 años y 3 meses a 13 años y 9 meses (edad media: 9,4 ± 3,5 años), con el S22q11, a través de registros de voz y de una prueba de evaluación fonológica y fonética. Además, se realiza una entrevista semiestructurada a los padres. Resultados. La mayoría de los niños y las niñas con el S22q11 tienen una voz más grave de lo esperable por su sexo y edad, a excepción de los niños varones con más de 12 años. En cuanto a la intensidad, todos ellos se encuentran dentro de los parámetros de normalidad en la conversación espontánea. Todos presentan alteraciones del timbre, principalmente por hipernasalidad. Respecto al habla, hay mayores dificultades en la articulación de las fricativas, las africadas, la rótica vibrante (/r/) y los grupos consonánticos + /r/. Asimismo, los niños, sobre todo los más pequeños, utilizan las oclusivas glóticas para sustituir consonantes. Conclusiones. En la muestra estudiada, la mayoría de los niños con el S22q11 presenta alteraciones específicas tanto de la voz como del habla

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

[Voice and speech of children with 22q11 deletion syndrome]. / Voz y habla de los niños con sindrome de delecion de 22q11.

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.

TITLE: Voz y habla de los niños con sindrome de delecion de 22q11.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 española con el S22q11. Pacientes y metodos. Se evalua la voz y el habla de una muestra de 10 niños y 7 niñas, de 3 años y 3 meses a 13 años y 9 meses (edad media: 9,4 ± 3,5 años), 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 niños y las niñas con el S22q11 tienen una voz mas grave de lo esperable por su sexo y edad, a excepcion de los niños varones con mas de 12 años. 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 niños, sobre todo los mas pequeños, utilizan las oclusivas gloticas para sustituir consonantes. Conclusiones. En la muestra estudiada, la mayoria de los niños con el S22q11 presenta alteraciones especificas tanto de la voz como del habla.

Assessment of cognition and language in the early diagnosis of autism spectrum disorder: usefulness of the Bayley Scales of infant and toddler development, third edition.

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.

Lateral preference in Williams-Beuren syndrome is associated with cognition and language.

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.

Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology.

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.

Adaptive behaviour in Angelman syndrome: its profile and relationship to age.

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour. METHOD: We studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of 'motor skills', 'language and communication', 'personal life skills' and 'community life skills' in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile. RESULTS AND CONCLUSIONS: None of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with 'personal life skills' emerging as relative strengths and 'social and communication skills' as weaknesses.

[Medical and behavioural aspects of Angelman syndrome]. / Aspectos médicos y conductuales del síndrome de Angelman.

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.

Aspectos médicos y conductuales del síndrome de Angelman / Medical and behavioural aspects of angelman syndrome

Introducción. El síndrome de Angelman (SA) es un trastorno de base genética caracterizado por un fenotipo físico y conductual. Además, presenta diversas manifestaciones sistémicas que se deben tomar en consideración. Con el fin de valorar el espectro sintomático del SA, se solicitó la colaboración de familias vinculadas a asociaciones de SA mediante un cuestionario diseñado con base en las características clínicas del SA. Pacientes y métodos. Se envió a las familias un cuestionario orientado a determinar las características médicas y conductuales del SA. Se analizaron los resultados de 68 pacientes. Resultados. La edad media de diagnóstico fue de 4,8 años. Los síntomas más precoces que han llamado la atención a los padres son los problemas de alimentación, seguidos del reflujo gastroesofágico y la hipotonía. La edad media de adquisición de la sedestación es a los 18 meses, en tanto que la marcha autónoma no se adquiere hasta los 43 meses. La epilepsia, presente en el 91% de los casos, se inició con convulsiones febriles en el55%. En este estudio hemos hallado que un gran porcentaje de pacientes con SA presenta una elevada resistencia al dolor (67%),síntoma muy común en el síndrome de Prader-Willi, pero poco conocido en el SA. Conclusiones. Este estudio ofrece una amplia información sobre el espectro clínico del SA a partir de una extensa muestra poblacional. Algunos aspectos clínicos de elevada prevalencia, tales como la relativa insensibilidad al dolor, no se han recogido en publicaciones anteriores como síntoma propio del SA (AU)

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 asitting posture was 18 months, while autonomous walking was not achieved until 43 months. Epilepsy, which was present in91% 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 (AU)

[Can the behavioural phenotype of fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?]. / Se puede atribuir el fenotipo conductual del síndrome X frágil al retraso mental y al trastorno por déficit de atención/hiperactividad?

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.

¿Se puede atribuir el fenotipo conductual del síndrome X frágil al retraso mental y al trastorno por déficit de atención/hiperactividad? / Can the behavioural phenotype of fragile x syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?

Introducción. El síndrome X frágil (SXF) se expresa por estigmas dismórficos, manifestaciones sistémicas, síntomas neurológicos y manifestaciones cognitivoconductuales. Entre estas últimas es casi constante la existencia de retraso mental (RM) y trastorno por déficit de atención/hiperactividad (TDAH); pero, además, también suelen presentarse una serie de características conductuales bastante comunes en la mayoría de pacientes. Las conductas más propias del SXF son: problemas de lenguaje, falta de atención, hiperactividad, ansiedad, timidez, problemas de conducta, estereotipia de aleteo de manos, evitación de la mirada, tozudez y agresividad. Objetivo. En este trabajo se pretende determinar cuáles son los aspectos conductuales del síndrome que estarían vinculados a la especificidad genética y, por tanto, no determinados por el RM y el TDAH. Pacientes y métodos. Se comparan tres grupos de pacientes: 30 niños diagnosticados de SXF, 30 niños con RM de etiología diversa y 323 niños con el diagnóstico de TDAH. Resultados. Se comprobó que el cociente intelectual y la edad de los grupos SXF y RM no mostraban diferencias significativas. Para determinar las características conductuales de los tres grupos, los padres de los pacientes contestaron el cuestionario CBCL 4-18 de Achenbach. Conclusiones. Los resultados obtenidos permiten apreciar que ciertas conductas, muy típicas del SXF, se encuentran representadas significativamente más en el grupo SXF que en los grupos RM y TDAH. Estas conductas son: comportamiento vergonzoso, apego a los adultos, timidez, repetición de ciertos actos una y otra vez, problemas de pronunciación y habla, miedo a animales, situaciones o lugares y preocupación por el orden y la limpieza. Estos resultados abogan en favor de que el fenotipo conductual del SXF está vinculado a la alteración genética y, por tanto, no es una consecuencia del RM o del TDAH (AU)

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 (AU)

Tratamiento médico del síndrome X frágil / Medical treatment of fragile X syndrome

No se ha hallado todavía ninguna medicación para el síndrome X frágil (SXF) que actúe directamente sobre los mecanismos genéticos o sobre las repercusiones inmediatas del defecto genético. No obstante, las manifestaciones conductuales y cognitivas pueden ser abordadas tanto desde la vertiente psicológica y pedagógica como desde la intervención farmacológica. Ambas formas de abordaje no son excluyentes, sino que, por el contrario, se complementan y se potencian mutuamente. En la actualidad existen potentes fármacos capaces de mejorar los síntomas más relevantes en el SXF: trastornos de conducta, hiperactividad y falta de atención, síntomas obsesivos y problemas de ansiedad. Los fármacos que pueden resultar útiles son: los estimulantes del sistema nervioso, la clonidina, el ácido fólico, los inhibidores de recaptación de serotonina y los antipsicóticos atípicos. También es preciso un abordaje farmacológico para la epilepsia en el caso de que esté presente. No existe un antiepiléptico específico para el SXF, por lo cual es necesario actuar de acuerdo con el antiepiléptico más eficaz según el tipo de crisis, valorando, además, la tolerancia y los posibles efectos sobre la conducta. Otro aspecto que puede merecer una atención especial es el problema de insomnio que presentan algunos niños con el SXF. En este caso la melatonina puede resultar muy útil (AU)

[Psycholinguistic aspects of fragile X chromosome syndrome]. / Aspectos psicolingüísticos en el síndrome del cromosoma X frágil.

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.

[Medical treatment of fragile X syndrome]. / Tratamiento médico del síndrome X frágil.

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.