Health, functionality, and social support in families with a child with a neurodevelopmental disorder - a pilot study.

Introduction: Several studies have reported that having a child with a neurodevelopmental disorder (NDD) increases parental stress and that parental psychosocial functioning influences child`s development and behavior. It is unclear how parents of children with NDD experience family functionality, family health and receive support and if there are differences between experiences of mothers and fathers. Methods: Families with children referred to a neurocognitive unit were invited to the study. A modified version of the FAmily Functionality, HEalth, and Social support (FAFHES) questionnaire was used. Open-ended questions were also included. Results: Parents rated their social support lower than their family functionality and family health. Family functionality correlated positively with family health. No significant differences were found between mothers' and fathers' experiences. A three-months test-retest using the FAFHES showed no significant change in ratings of family functionality, family health, and social support. Conclusions: Family functionality was connected to family health in families with a child with NDD. Mothers and fathers experienced their family health, family functionality, and received social support in similar ways.

Sluggish cognitive tempo in children and adolescents with higher functioning autism spectrum disorders: Social impairments and internalizing symptoms.

Sluggish cognitive tempo (SCT) was introduced in 1980s in the field of attention deficit hyperactivity disorder (ADHD). Studies indicate that symptoms of SCT are separate from symptoms of ADHD and independently associated with multiple domains of functioning in clinical groups and in typical development. We assessed whether similar pattern would apply to higher functioning autism spectrum disorders (ASD). Children with higher functioning ASD (N = 55; 5-15 years) were divided into the ASD+High SCT (n = 17), the ASD+Medium SCT (n = 18) and the ASD+Low SCT (n = 20) groups based on parent-rated daydreaming and slowness on the Five to Fifteen questionnaire (FTF). The groups were compared on SCT-related impairments found in previous studies: social skills, academic functioning, psychiatric symptoms, and processing speed. Assessment methods were the FTF, the Development and Well-Being Assessment, and the Coding subtest of the WISC-III. The ADHD symptoms were statistically controlled due to the overlap between SCT and ADHD. The ASD+High SCT and ASD+Medium SCT groups were significantly more likely to have the most pronounced social impairments, and the ASD+High SCT group had significantly higher rate of internalizing disorders compared to the ASD+Low SCT group. Our results suggest that children with higher functioning ASD and high or medium levels of SCT symptoms could be at higher risk for psychosocial impairments than children with higher functioning ASD with low levels of SCT symptoms. Co-occurring ADHD symptoms do not explain the finding. Recognizing SCT symptoms in higher functioning ASD would be important to targeting preventive support.

Parental Psychopathology and Tourette Syndrome/Chronic Tic Disorder in Offspring: A Nationwide Case-Control Study.

OBJECTIVE: To determine the associations between maternal and paternal psychiatric diagnoses and Tourette syndrome (TS)/chronic tic disorder (CT) in a nationwide study. METHOD: This nested case-control study linked data derived from three national registers. All singletons born and diagnosed with TS/CT in Finland between January 1991 and December 2010 were identified (n = 1,120) and matched to four controls (n = 4,299). Conditional logistic regression was used to examine the associations between parental psychopathology and TS/CT. RESULTS: Altogether, 24.9% of patients with TS/CT and 12.0% of controls had a mother with a psychiatric diagnosis. Similarly, 17.9% and 12.9% had a father with a psychiatric diagnosis. Any maternal and any paternal psychiatric diagnosis was associated with offspring TS/CT (odds ratio [OR] 2.3; 95% CI 1.9-2.7 and OR 1.2; 95% CI 1.01-1.5, respectively). The association between maternal psychiatric diagnosis and TS/CT was stronger than that between paternal psychiatric diagnosis and TS/CT (p < .001). Maternal personality disorders (OR 3.1, 95% CI 1.9-5.1), anxiety disorders (OR 2.6, 95% CI 1.9-3.5), affective disorders (OR 2.3, 95% CI 1.8-2.9), psychotic disorders (OR 2.0, 95% CI 1.2-3.3), and addiction disorders (OR 1.8, 95% CI 1.1-2.8) were associated with TS/CT. Paternal OCD (OR 6.5, 95% CI 1.1-39.5) and anxiety disorders (OR 1.5, 95% CI 1.1-2.3) were associated with TS/CT. CONCLUSION: Parental psychiatric diagnoses (especially in the mother) are associated with diagnosed offspring TS/CT. Further studies are required before the results can be generalized to all children with TS/CT. The associations between maternal psychiatric disorders and TS may reflect both maternal specific environmental and/or genetic influences.

Are There Differences in Neurocognition and Social Cognition Among Adolescents with Schizophrenia, a Pervasive Developmental Disorder, and Both Disorders?

Schizophrenia (SCH) and pervasive developmental disorders (PDDs) belong to different diagnostic categories. There is, however, overlap between these 2 diagnostic groups. The aim of this preliminary study was to evaluate some aspects of neurocognitions and social cognitions in adolescents with SCH (n = 10, 2 boys and 8 girls; age range = 13.3-17.7 years), a PDD (n = 15, 7 boys and 8 girls; age range = 13.3-18.0 years), or both disorders (n = 8, 5 boys and 3 girls; age range = 13.5-18 years). Eight subtests (Information, Similarities, Arithmetic, Comprehension, Picture Completion, Coding B, Block Design, and Object Assembly) of the Wechsler Intelligence Scale for Children-Third Version and 2 subtests (Theory of Mind [ToM] and Affect Recognition) of the NEPSY-II were administered. Adolescents with both disorders and those with a PDD only performed better on visual processing tasks than did adolescents with SCH only. On the other hand, adolescents with both disorders as well as those with SCH only experienced more problems with processing speed than did adolescents with a PDD only. Adolescents with SCH only performed significantly more poorly with verbal ToM tasks compared with those with a PDD only. Adolescents with both disorders performed as well as those with SCH only. All in all, our preliminary findings support the current idea that SCH and PDDs are separate disorders.

Obstetric and Neonatal Adversities, Parity, and Tourette Syndrome: A Nationwide Registry.

OBJECTIVE: To determine the relationships between parity, obstetric adversities, neonatal factors, and Tourette syndrome in a large nationwide cohort. STUDY DESIGN: This nationwide, register-based, nested case-control study identified all children diagnosed with Tourette syndrome born between 1991 and 2010 from the Finnish Hospital Discharge Register (n = 767). Each case was matched to 4 controls. Information on parity, obstetric, and neonatal factors was obtained from the Finnish Medical Birth Register. Conditional logistic regression was used to determine the relationship between parity, obstetric, and neonatal factors, and Tourette syndrome. RESULTS: Nulliparity was associated with increased odds for Tourette syndrome (OR 1.7, 95% CI 1.4-2.2), and 3 or more previous births was associated with decreased odds for Tourette syndrome (OR 0.5, 95% CI 0.3-0.9) compared with parity 1-2. Birth weight 4000-4499 g was associated with decreased odds for Tourette syndrome (OR 0.7, 95% CI 0.5-0.9). Low birth weight, gestational age, weight for gestational age, Apgar score at 1 minute, induced labor, birth type or presentation, neonatal treatment, or maternal blood pressure were not associated with Tourette syndrome. CONCLUSIONS: Increasing parity and high birth weight are associated with decreased odds for Tourette syndrome.

Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

[Tourette's syndrome--diverse group of patients, individual need for treatment]. / Touretten oireyhtymä--monimuotoinen sairaus, yksilöllinen hoidon tarve.

Tourette's syndrome is a neuropsychiatric syndrome having its onset in childhood and presenting tics as the characteristic feature. In spite of clear diagnostic criteria the syndrome often remains unrecognized. Recognition and treatment of comorbidities are essential. Drug treatment and cognitive therapy may be used, if tics cause functional or social handicap. In very difficult situations, deep brain stimulation may be considered for adult patients. While the natural course of the syndrome is usually favorable, 10 to 20% of the patients continue to have disturbing symptoms in adulthood.

Neurocognitive performance of children with higher functioning autism spectrum disorders on the NEPSY-II.

This study examined patterns of strengths and weaknesses in the neurocognitive performance of children with higher functioning autism spectrum disorder (ASD). The participants were 30 children with higher functioning ASD ranging from 6 to 11 years, and 60 typically developing (TD) children, who were matched with the children with higher functioning ASD in terms of age, gender, and maternal education. The TD children were drawn from the Finnish standardization sample for the NEPSY-II. The cognitive abilities of the children with higher functioning ASD were assessed with the WISC-III, and the neurocognitive performance of the children with higher functioning ASD and TD children on the NEPSY-II was compared. The children with higher functioning ASD were found to have strengths in verbal reasoning skills with respect to the population mean and weaknesses in set-shifting, verbal fluency, and narrative memory in comparison with the TD children. Minor weaknesses were also observed in facial memory and fine and visuomotor skills.

A nationwide register study of the characteristics, incidence and validity of diagnosed Tourette syndrome and other tic disorders.

AIM: The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. METHODS: Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians. RESULTS: The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%. CONCLUSION: This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders.

Neurocognitive functioning in adolescents with autism spectrum disorder.

There is a paucity of research studying comprehensive neurocognitive profiles of adolescents with higher functioning autism spectrum disorders (ASD). This study compared the neurocognitive profiles of higher functioning adolescents with ASD (n = 30, mean age 13.5) with that of typically developing adolescents (n = 30; mean age 13.7). Adolescents with ASD demonstrated a significantly higher mean Verbal Intelligence Quotient compared to the standardized mean. However, the ASD group had significantly lower scores than the control group on the subtests Auditory Attention and Response Set, Memory for Faces, Visuomotor Precision, and Design Copying. Thus, particular strengths were seen in verbal reasoning, while weaknesses were observed in auditory attention, facial recognition memory, and visuomotor functions in adolescents with ASD.

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene.

Developmental dyslexia, or reading disability, is a multigenic complex disease for which at least five loci, i.e. DYX1-3 and DYX5-6, have been clearly identified from the human genome. To date, DYX1C1 is the only dyslexia candidate gene cloned. We have previously reported linkage to 2p11 and 7q32 in 11 Finnish pedigrees. Here, we report the fine mapping of the approximately 40-cM linked region from chromosome 2 as we increased marker density to one per 1.8 cM. Linkage was supported with the highest NPL score of 3.0 (P=0.001) for marker D2S2216. Association analysis using the six pedigrees showing linkage pointed to marker D2S286/rs3220265 (P value <0.001) in the near vicinity of D2S2216. We went on to further characterise this approximately 15-cM candidate region (D2S2110-D2S2181) by adding six SNPs covering approximately 670 kb centred at D2S286/rs3220265. A haplotype pattern could no longer be observed in this region, which was therefore excluded from the candidate area. This also excluded the TACR1 (tachykinin receptor 1) gene, located at marker D2S286. The dyslexia candidate region on 2p11 is, therefore, now limited to the chromosomal area D2S2116-D2S2181, which is approximately 12 Mbp of human sequence and is at a distinct location from the previously reported DYX3 locus, raising the possibility of two distinct loci on chromosome 2p.

Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.

Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.