The association between congenital anomalies and autism spectrum disorders in a <scp>F</scp>innish national birth cohort

Timonen-Soivio, Laura; Vanhala, Raija; Malm, Heli; Leivonen, Susanna; Jokiranta, Elina; Hinkka‐Yli‐Salomäki, Susanna; Gissler, Mika; Brown, Alan S.; Sourander, André

doi:10.1111/dmcn.12581

Cited by 24 publications

(20 citation statements)

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“…However, ASD risk factors do not cause only ASD social impairment and RRBs to be expressed together at rates above chance. In fact, fewer than 5 % of individuals with ASD have been found to express ASD diagnostic social impairment and RRBs together without any non-ASD symptoms (Lundström et al 2015b), and/or minor physical anomalies (MPAs) , and/or MCAs (Timonen-Soivio et al 2015). More than 95 % of individuals with ASD express ASD diagnostic symptoms along with ADHD, ID, epilepsy, language impairment, motor dysfunctions, attention deficits, anxiety, varied medical conditions, and many other symptoms (Coleman and Gillberg 2012;Lundström et al 2015b;Pine et al 2008;Richards et al 2015;Waterhouse 2013).…”

Section: Criteria Validity Research Approach 2: Do the Two Core Asd Dmentioning

confidence: 99%

“…There has been ASD gender subgrouping Ypma et al 2016), ASD brain feature subgrouping (Piras et al 2014;Hahamy et al 2015), ASD behavior subgrouping (Chaste et al 2015;Kim et al 2016;Veatch et al 2014), ASD developmental course subgrouping (Fountain et al 2012;Lord et al 2015), ASD behavior and brain feature subgrouping , ASD MPAs subgrouping , ASD MCAs subgrouping (Timonen-Soivio et al 2015), and ASD risk gene variant subgrouping (Hormozdiari et al 2015;Krumm et al 2014;Noh et al 2013).…”

Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

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ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Section: Criteria Validity Research Approach 2: Do the Two Core Asd Dmentioning

confidence: 99%

Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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“…As Timonen‐Soivio et al. report, population‐based studies over the past 15 years have consistently detected an increased rate of congenital anomalies among children with autism spectrum disorder (ASD). However, important questions have remained regarding whether clinical heterogeneity, particularly with respect to diagnostic subtype and cognitive level, might index different rates of congenital anomalies.…”

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confidence: 99%

“…However, important questions have remained regarding whether clinical heterogeneity, particularly with respect to diagnostic subtype and cognitive level, might index different rates of congenital anomalies. In their well‐designed study linking four population databases in Finland, Timonen‐Soivio et al . report that ASD is associated with major and minor congenital anomalies regardless of ICD‐10 subtypes and the presence or absence of intellectual disability, although rates are higher among children with ASD who are intellectually disabled.…”

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confidence: 99%

Congenital anomalies and etiological diversity in autism

Zwaigenbaum

2014

Develop Med Child Neuro

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from vigabatrin-related retinal toxicity. Riikonen et al.'s results are in favour of a relationship between exposure and toxicity, despite the lack of definite statistical evidence. The authors logically conclude that 'low doses and short treatment' should be used for vigabatrin. Indeed, vigabatrin should be stopped in the case of incomplete control of epilepsy, the reasonable aim for the treatment of infantile spasms.However, these suggestions require some precision to be applied in clinical practice. The first pitfall would be to discourage vigabatrin prescription in newly diagnosed infantile spasms. To date no other drug proved to be efficient on symptomatic epileptic spasms except hormonal therapy at high doses, which demonstrated lower efficacy than vigabatrin in tuberous sclerosis 1 and equivalent efficacy at 1 year in other causes.5 Potentially life-threatening adverse events of steroids have also to be considered when compared to vigabatrin retinal toxicity. Finally, the subjective impact of vigabatrin-related VFL is exceptionally assessed in the reports: in fact very few patients complain of such peripheral VFL. Except for driving, VFL seldom alters quality of life, and in no case would the impact be comparable to the cognitive deterioration caused by persisting or relapsing infantile spasms.The second pitfall would be to underestimate the required vigabatrin dose <36mg/kg/day proved to be inefficient randomly compared to the usual 100-150mg/kg/day, 6 and the lowest effective dose has yet to be determined. Interestingly, the daily dose of vigabatrin was found positively correlated to the severity of VFL: in Riikonen et al.'s study five of the nine patients receiving at least 1500mg/ day provided five of the six severe VFL cases.The third and still unsolved question is the optimal treatment duration regarding the risk of relapse of refractory infantile spasms and cognitive deterioration after vigabatrin termination. Infantile spasms relapse is maximum within the first year of treatment, but may occasionally occur some years later after vigabatrin withdrawal and be untreatable, particularly in focal cortical dysplasia and tuberous sclerosis. 7 In other cases, it seems possible not to exceed 6 months' treatment.The risk of vigabatrin needs, therefore, to be balanced against that of alternative therapy and of the disease, including severe relapse determined by aetiology. Leo Kanner, in his original case series 1 that introduced the diagnostic concept of autism, observed that children with the behavioral syndrome were essentially healthy and without abnormalities in physical morphology, apart from an enlarged head size in some. However, with subsequent attention to the importance of neurobiological factors in the etiology of autism, an association with congenital anomalies was recognized.2 As TimonenSoivio et al. report, 3 population-based studies over the past 15 years have consistently detected an increased rate of congenital anomalies among children with autism spectrum disorder (ASD). However, important...

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“…The children were followed for the diagnosis of ASD and the availability of a wealth of medical information present for the more than 4000 (!) children who did and for those who did not receive this diagnosis, opens up ample opportunities to look for associations that may lead us to a better understanding of such disorders [11].…”

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confidence: 99%

Child psychiatric epidemiology: stars and hypes

Verhulst

Tiemeier

2015

Eur Child Adolesc Psychiatry

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Usually, epidemiologists stay away from trying to forecast the future at the individual level. One of today's most influential epidemiologists, George Davy Smith, emphasizes the neglected role of chance events that contributes a stochastic element to all occurrences and hampers meaningful prediction of any specific negative or positive outcome [3]. In this editorial, we take the liberty, admittedly with some pleasure, to violate his advice and attempt to predict the future of child psychiatric epidemiology. We hope the reader will appreciate that we briefly look ahead and try to identify those epidemiological activities and study opportunities that, to our opinion, are exciting and deemed successful, as well as those that may well lead to dead-ends.Studies need to look for innovative opportunities to test hypotheses rather than put their ambition in unrealistic large size only. A recent dramatic example of how an epidemiological study can fail is the dismantling of the National Children's Study (NCS) in December 2014. This study aimed to follow the health of 100,000 U.S. children from before birth to age 21 and investigate a range of hypotheses developed by hundreds of scientists on the influences of countless factors, from chemical to psychosocial exposures, on child development and health outcomes. This study cost more than $1.2 billion, but because of its scientific and managerial flaws it was discontinued after only some pilot inclusions. This contrasts with studies of less ambitious size that are equally or more innovative and suited to test specific hypotheses. Examples are studies carried out in third world countries, where exposure to poverty is much greater than in Western countries, or studies in Scandinavian countries, where the use of registers with data on millions of individuals enables researchers to perform prospective etiological studies of disorders with relatively low frequencies such as autism.Epidemiological studies have been essential for the development of child psychiatry over the last half-century, especially in describing the frequency and course of child psychiatric problems, and in demonstrating strong crossculturally consistent associations between social disadvantage or child neglect with child psychopathology. Traditionally, epidemiological studies also attempt to tackle questions of causality of child mental health problems. For obvious ethical and practical reasons, the experimental design to answer causal questions is often not feasible, and observational approaches, more than ever, have been crucial for a better understanding of the role of risk factors in the development of psychopathology. Perhaps the most outstanding contribution of recent epidemiological science has been to show the many reasons why observed associations do not reflect environmentally mediated causal effects. For example, the association between prenatal smoking and later child problem behaviours can largely be explained by inherited factors transmitted from mother to child [1].So far so good, and surely th...

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The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort

Cited by 24 publications

References 26 publications

ASD Validity

ASD Validity

Congenital anomalies and etiological diversity in autism

Child psychiatric epidemiology: stars and hypes

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