The provision and nature of ADHD services for children/adolescents in the UK: results from a nationwide survey.

The Attention Deficit Hyperactivity Disorder (ADHD) Observational Research in Europe (ADORE) project aims to describe the relationship between prescribed treatment regimen and quality of life in ADHD patients across Europe over a 2-year period. As an adjunct to the ADORE study, a survey was conducted to assess the availability and range of ADHD treatment services in the UK. A questionnaire was developed to assess service provision at 20 UK ADORE sites. These data give information regarding the assessment process (i.e. the formal psychological instrumentation used), whether information is requested from schools, and what other medical and allied health care specialities are frequently involved in the diagnosis. Results of the survey provide an important insight into the ADHD-related services provided by ADORE centres, as well as highlighting the availability and limitations of such services.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation--were observed, but each feature was only found once, in a single patient. The microdeletion is approximately 1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome.