Search

Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ

Language impairment and delayed language onset have been described, although not investigated in detail, in children with 22q11 deletion syndrome.To investigate different areas of language: the ability to retell a narrative, phonology, syntax and receptive vocabulary in a group of 5-8-year-old children with 22q11 deletion syndrome regardless of whether or not they had a history of speech and language difficulties. Gender differences were also investigated.Nineteen consecutively referred children with 22q11 deletion syndrome, ten girls and nine boys, between the ages of 5 and 8 years, participated in the study. The mean full-scale IQ of the group was 78. Six children had an autism spectrum disorder, attention deficit/hyperactivity disorder, or a combination of these. Three different language tests were used: (1) the Bus Story - a test of narrative speech and language; (2) an articulation test including all Swedish phonemes in different positions; and (3) the Peabody Picture Vocabulary Test - Revised (PPVT-R).All but two children had an information score in the retelling task of 1 SD below the population mean. A negative correlation between age and the information score implied that the older the children, the more severe the problems. One child had an average sentence length within the normal limits and five children had subordinate clauses within normal limits. A median of 4% of the utterances included grammatical errors. About 50% of the children had a complete consonant inventory. The phonological process analysis implied delayed rather than deviant development. The group had a moderately low score for receptive vocabulary.Language difficulties in all investigated areas of language were found. It is suggested that speech-language impairment is a common feature of 22q11 deletion syndrome. An implication of these results is that follow-ups of language skills are important not only for pre-school children, but also for school age children and adolescents with 22q11 deletion syndrome.

Purpose: This study was undertaken with a view to establishing the occurrence of neuropsychiatric disorders in the 22q11 deletion syndrome. Methods: Thirty-two children and young adults with genetically confirmed 22q11 deletion were given comprehensive neuropsychiatric assessments. Results: Altogether, 56% had a neuropsychiatric disorder. Only 6% were of normal IQ and free of physchiatric disorder. Attention-deficit/hyperactivity disorder was diagnosed in 44% and 31% had an autism spectrum problem. In 16% criteria for both these diagnoses were met. Fifty-three percent had mental retardation, often with a test-profile suggesting a nonverbal learning disorder. Conclusion: The findings imply that a majority of children and adolescents with 22q11 deletion syndrome are in need of neuropsychiatric assessment and intervention.

The purpose of the present study was to assess which types of neuropsychological deficits appear to be most commonly associated with autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) in adults. The effect of the combination of ASD with ADHD (ASD/ADHD) was also studied. One hundred and sixty-one adult individuals (≥18 years of age) were included in the study. None had full scale IQ less than 71. The neuropsychological investigations included measures of intellectual ability, learning and memory, attention/executive function and theory of mind. The three diagnostic groups showed reduced performance in most cognitive domains. However, within these domains differentiating distinct features could be seen. The dysfunctions of the ASD/ADHD group cannot be seen as a summary of the dysfunctions found in the ASD and ADHD groups. The ADHD seemed to have the most severe neuropsychological impairments of the three groups. No domain-specific deficit typical of any of the diagnostic groups was found.

The primary objective of this study was to study the impact of ASD/ADHD on general intellectual ability and profile, executive functions and visuo-motor skills in children and adults with 22q11 deletion syndrome (22q11DS). A secondary aim was to study if gender, age, heart disease, ASD, ADHD or ASD in combination with ADHD had an impact on general intellectual ability and profile. One hundred consecutively referred individuals aged 1-35 years with 22q11DS were given in-depth neuropsychological assessments. Mean full scale IQ was 71 with a normal distribution around this mean. Higher IQ for females than males, and a negative trend for IQ with higher age were found. Intellectual impairment, as well as visuo-motor dysfunction, was found to be related to 22q11DS per se and not to ASD/ADHD. In the area of executive function, the presence of ASD/ADHD predicted poor planning ability in the children in the study.

This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention deficit/hyperactivity disorder (ADHD) were diagnosed in 44 cases. ASD was diagnosed in 23 cases of whom only 5 had autistic disorder. ADHD was diagnosed in 30 individuals. In nine of these cases with ASD or ADHD there was a combination of these diagnoses. Mental retardation (MR) with or without ASD/ADHD was diagnosed in 51 individuals. ASD, ADHD, and/or MR were present in 67 cases. Females had higher IQ than males. The results of this study showed that the vast majority of all individuals with 22q11 deletion syndrome have behavior and/or learning problems and more than 40% meet criteria for either ASD, ADHD or both. Neuropsychiatric and neuropsychological evaluations are indicated as parts of the routine clinical assessment of individuals with 22q11 deletion syndrome.

The authors describe personality development and disorders in relation to symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders.Consecutive adults referred for neuropsychiatric investigation (N=240) were assessed for current and lifetime ADHD and autism spectrum disorders and completed the Temperament and Character Inventory. In a subgroup of subjects (N=174), presence of axis II personality disorders was also assessed with the Structured Clinical Interview for DSM-IV Personality Disorders (SCID-II).Patients with ADHD reported high novelty seeking and high harm avoidance. Patients with autism spectrum disorders reported low novelty seeking, low reward dependence, and high harm avoidance. Character scores (self-directedness and cooperativeness) were extremely low among subjects with neuropsychiatric disorders, indicating a high overall prevalence of personality disorders, which was confirmed with the SCID-II. Cluster B personality disorders were more common in subjects with ADHD, while cluster A and C disorders were more common in those with autism spectrum disorders. The overlap between DSM-IV personality disorder categories was high, and they seem less clinically useful in this context.ADHD and autism spectrum disorders are associated with specific temperament configurations and an increased risk of personality disorders and deficits in character maturation.

Background It is only recently that comorbidity in ADHD has come to the forefront as one of the most important aspects of the disorder. It is agreed that, often, these problems are at least as important as ADHD in contributing to the longer term outcome in the individual child. Objective To provide the reader with basic information about clinics and treatment of comorbidity in ADHD. Method Review of the empirically based literature. Results ADHD exists in a surprisingly high frequency together with a broad range of child neuropsychiatric disorders. This is accompanied with many still unresolved treatment problems. Conclusion It would not be appropriate to develop ADHD–services where clinicians would only have expertise in ADHD as such. Anyone working with children, adolescents and adults with ADHD would need to have training in general neuropsychiatry. Further research in this field is urgently needed. (Less)

This study examined attention abilities of children with 22q.11 deletion syndrome. Thirty children (14 males, 16 females; age range 7 to 13y) were given comprehensive neuropsychological and neuropsychiatric assessments. Learning disability was found in 13 children. Superiority in verbal over performance IQ was very common. Attention-deficit-hyperactivity disorder (mainly of inattentive subtype) was diagnosed in 13 children. There appeared to be a relation between low IQ and presence of autism spectrum problems. The presence of attention deficits was clearly supported by the scores on the Child Behavior Checklist and the Conners Questionnaire. On the Becker attention tests the reaction times were significantly longer in the two visual and auditory tests, indicating that the ability to sustain attention is critically impaired in this group. A tendency of inferiority on auditory compared with visual tests was noted but there were no specific problems with the focus-execute aspect of attention.