Browsing by Subject "AUTISM SPECTRUM DISORDERS"

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  • Roine, Ulrika; Salmi, Juha; Roine, Timo; Nieminen-von Wendt, Taina; Leppämäki, Sami; Rintahaka, Pertti; Tani, Pekka; Leemans, Alexander; Sams, Mikko (2015)
  • Cavonius-Rintahaka, Diana; Aho, Anna Liisa; Billstedt, Eva; Gillberg, Christopher (2021)
    Aim: To describe the development and implementation of a Dialogical Family Guidance (DFG) intervention, aimed at families with a child with neurodevelopmental disorders (NDD). Design: The DFG components are presented and the content of a DFG training course. Professionals' experiences after the DFG training were evaluated. Methods: Dialogical Family Guidance development phases and implementation process are examined. The Revised Standards for Quality Improvement Reporting Excellence checklist (SQUIRE 2.0) was used to provide a framework for reporting new knowledge. Results: The DFG training course seemed to increase possibilities of a more independent role as a nurse to deliver the DFG family intervention. The project showed that the use of dialogue can be difficult for some professionals. Analysis of the questionnaire completed after DFG training reported a high level of satisfaction. DFG training offered a new approach to deliver knowledge and understanding to families using dialogue, including tailored psychoeducation and emotional and practical guidance.
  • Danesi, Claudia Elisabetta; Keinänen, Kari Pekka; Castren, Maija Liisa (2019)
    Fragile X syndrome (FXS) is a neurodevelopmental disorder that represents a common cause of intellectual disability and is a variant of autism spectrum disorder (ASD). Studies that have searched for similarities in syndromic and non-syndromic forms of ASD have paid special attention to alterations of maturation and function of glutamatergic synapses. Copy number variations (CNVs) in the loci containing genes encoding alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptors (AMPARs) subunits are associated with ASD in genetic studies. In FXS, dysregulated AMPAR subunit expression and trafficking affect neural progenitor differentiation and synapse formation and neuronal plasticity in the mature brain. Decreased expression of GluA2, the AMPAR subunit that critically controls Ca2+-permeability, and a concomitant increase in Ca2+-permeable AMPARs (CP-AMPARs) in human and mouse FXS neural progenitors parallels changes in expression of GluA2-targeting microRNAs (miRNAs). Thus, posttranscriptional regulation of GluA2 by miRNAs and subsequent alterations in calcium signaling may contribute to abnormal synaptic function in FXS and, by implication, in some forms of ASD.
  • Robinson, Rachel; Lahti-Pulkkinen, Marius; Heinonen, Kati; Reynolds, Rebecca M.; Räikkönen, Katri (2019)
    BACKGROUND: Maternal depression complicates a large proportion of pregnancies. Current evidence shows numerous harmful effects on the offspring. Reviews, which include depression, concluded that stress has harmful effects on the offspring's outcomes neuro-cognitive development, temperament traits, and mental disorders. OBJECTIVE: This mini review of recent studies, sought to narrow the scope of exposure and identify studies specifically assessing prenatal depression and offspring neuropsychiatric outcomes. STUDY ELIGIBILITY CRITERIA: The review included longitudinal, cohort, cross-sectional, clinical, quasi-experimental, epidemiological, or intervention study designs published in English from 2014 to 2018. PARTICIPANTS: Study populations included mother-child dyads, mother-father-child triads, mother-alternative caregiver-child triads, and family studies utilizing sibling comparisons. METHODS: We searched PubMED and Web of Science. Study inclusion and data extraction were based on standardized templates. The quality of evidence was assessed using the Newcastle-Ottawa Scale (NOS). RESULTS: Thirteen studies examining neuropsychiatric outcomes were included. We judged the evidence to be moderate to high quality. CONCLUSIONS: Our review supports that maternal prenatal depression is associated with neuropsychiatric adversities in children.
  • Platzer, Konrad; Yuan, Hongjie; Schuetz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O.; Helbig, Katherine L.; Tang, Sha; Willing, Marcia C.; Tinkle, Brad T.; Adams, Darius J.; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Stromme, Petter; Biskup, Saskia; Doecker, Dennis; Strom, Tim M.; Mefford, Heather C.; Myers, Candace T.; Muir, Alison M.; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E.; Brilstra, Eva; van Haelst, Mieke M.; van der Smagt, Jasper J.; Bok, Levinus A.; Moller, Rikke S.; Jensen, Uffe B.; Millichap, John J.; Berg, Anne T.; Goldberg, Ethan M.; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R.; Zackai, Elaine H.; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J.; Lawson, John A.; Roscioli, Tony; Jansen, Floor E.; Ranza, Emmanuelle; Korff, Christian M.; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R.; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A.; Brady, Lauren I.; Wolff, Markus; Dondit, Lutz; Pedro, Helio F.; Parisotto, Sarah E.; Jones, Kelly L.; Patel, Anup D.; Franz, David N.; Vanzo, Rena; Marco, Elysa; Ranells, Judith D.; Di Donato, Nataliya; Dobyns, William B.; Laube, Bodo; Traynelis, Stephen F.; Lemke, Johannes R. (2017)
    Background We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Methods Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. Results Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated. Conclusions In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.
  • Talvio, Karo; Kanninen, Katja M.; White, Anthony R.; Koistinaho, Jari; Castren, Maija L. (2021)
    Trace elements have important functions in several processes involved in cellular homeostasis and survival. Dysfunctional metal ion homeostasis can make an important impact on cellular defence mechanisms. We assessed the concentrations of 23 trace minerals in different tissues (brain, spleen, heart and liver) of Fmr1 knockout (KO) mice that display the main phenotype of Fragile X syndrome (FXS), an intellectual disability syndrome and the best-known monogenic model of autism spectrum disorder (ASD). Altogether, seven minerals-Cu, Fe, K, Mg, Mn, Na, and P-were above the detection limit with the analysis revealing increased iron content in the heart of Fmr1 KO mice. In addition, levels of iron were higher in the cerebellum of the transgenic mouse when compared to wild type controls. These results implicate a role for dysregulated iron homeostasis in FXS tissues and suggest that defective iron-related mechanisms contribute to increased tissue vulnerability in FXS.
  • Leivonen, Susanna; Scharf, Jeremiah M.; Mathews, Carol A.; Chudal, Roshan; Gyllenberg, David; Sucksdorff, Dan; Suominen, Auli; Voutilainen, Arja; Brown, Alan S.; Sourander, Andre (2017)
    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 12.00/0 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 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.
  • Rintala, Hanna; Chudal, Roshan; Leppämäki, Sami; Leivonen, Susanna; Hinkka-Yli-Salomaki, Susanna; Sourander, Andre (2017)
    Background: Incidence of obsessive-compulsive disorder (OCD) has been suspected to increase but nationwide epidemiological studies are limited. This study aims to examine sex-specific incidence time trends and characterize psychiatric and neurodevelopmental comorbidities and sociodemographic risk factors of OCD in specialist healthcare in Finland. Methods: A nationwide register-based study using data from four Finnish registers identified 3372 OCD cases and 13,372 matched controls (1: 4). Cumulative incidence in subjects born between 1987 and 2001 was estimated at ages of 10, 15, 20 and 23 years. Conditional logistic regression was used to examine the sociodemographic factors. Results: The cumulative incidence of OCD was 0.4% by age 23. Incidence by age 15 among three cohorts increased from 12.4 to 23.7 /10000 live born males and 8.5 to 28.0 /10000 live born females. 73% of the sample had a comorbid condition. Males were significantly more comorbid with psychotic and developmental disorders; females were more comorbid with depressive and anxiety disorders (p <0.001). Higher maternal SES was associated with an increased risk of OCD (OR 1.4; 95% CI 1.1-1.6). Conclusions: These findings suggest that incidence of treated OCD in specialist healthcare has increased. The reason may be increased awareness and rate of referrals but a true increase cannot be ruled out. Further research on risk factors of OCD is warranted.
  • Oldereid, Nan B.; Wennerholm, Ulla-Britt; Pinborg, Anja; Loft, Anne; Laivuori, Hannele; Petzold, Max; Romundstad, Liv Bente; Soderstrom-Anttila, Viveca; Bergh, Christina (2018)
    BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstetric outcomes, birth defects, autism spectrum disorders and schizophrenia in children. OBJECTIVE AND RATIONALE: The aim of this systematic review is to describe the influence of paternal factors on adverse short- and long-term child outcomes. SEARCH METHODS: PubMed, Embase and Cochrane databases up to January 2017 were searched. Paternal factors examined included paternal age and life-style factors such as body mass index (BMI), adiposity and cigarette smoking. The outcome variables assessed were short-term outcomes such as preterm birth, low birth weight, small for gestational age (SGA), stillbirth, birth defects and chromosomal anomalies. Long-term outcome variables included mortality, cancers, psychiatric diseases/disorders and metabolic diseases. The systematic review follows PRISMA guidelines. Relevant meta-analyses were performed. OUTCOMES: The search included 14 371 articles out of which 238 met the inclusion criteria, and 81 were included in quantitative synthesis (meta-analyses). Paternal age and paternal life-style factors have an association with adverse outcome in offspring. This is particularly evident for psychiatric disorders such as autism, autism spectrum disorders and schizophrenia, but an association is also found with stillbirth, any birth defects, orofacial clefts and trisomy 21. Paternal height, but not BMI, is associated with birth weight in offspring while paternal BMI is associated with BMI, weight and/or body fat in childhood. Paternal smoking is found to be associated with an increase in SGA, birth defects such as congenital heart defects, and orofacial clefts, cancers, brain tumours and acute lymphoblastic leukaemia. These associations are significant although moderate in size, with most pooled estimates between 1.05 and 1.5, and none exceeding 2.0. WIDER IMPLICATIONS: Although the increased risks of adverse outcome in offspring associated with paternal factors and identified in this report represent serious health effects, the magnitude of these effects seems modest.
  • Kaltiala-Heino, Riittakerttu; Sumia, Maria; Tyolajarvi, Marja; Lindberg, Nina (2015)
    Background: Increasing numbers of adolescents present in adolescent gender identity services, desiring sex reassignment (SR). The aim of this study is to describe the adolescent applicants for legal and medical sex reassignment during the first two years of adolescent gender identity team in Finland, in terms of sociodemographic, psychiatric and gender identity related factors and adolescent development. Methods: Structured quantitative retrospective chart review and qualitative analysis of case files of all adolescent SR applicants who entered the assessment by the end of 2013. Results: The number of referrals exceeded expectations in light of epidemiological knowledge. Natal girls were markedly overrepresented among applicants. Severe psychopathology preceding onset of gender dysphoria was common. Autism spectrum problems were very common. Conclusion: The findings do not fit the commonly accepted image of a gender dysphoric minor. Treatment guidelines need to consider gender dysphoria in minors in the context of severe psychopathology and developmental difficulties.