Asperger's Syndrome and Ligamentous Laxity

doi:10.1097/00004583-199011000-00008

Journal of the American Academy of Child & Adolescent Psychiatry

Volume 29, Issue 6, November 1990, Pages 892-896

https://doi.org/10.1097/00004583-199011000-00008 Get rights and content

Abstract

Two autistic girls and one autistic man in whom Asperger's syndrome coexists with lifelong ligamentous laxity and muscular incoordination are described. Two had cranial circumferences at or above the 90th percentile as children, two have complex partial epilepsy, one has a colloid cyst of the third ventricle, and one had evidence of Sotos syndrome. Echocardiography was performed in the two girls and both had evidence of increased aortic compliance. It is suggested that all three suffer from a Marfan-like disorder of connective tissue and, more speculatively, that this has led to anomalous development of midline brain structures with consequent social handicaps characteristic of Asperger's syndrome. J. Am. Acad. Child Adolesc. Psychiatry, 1990, 29, 6:892–896.

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Cited by (39)

A connective tissue disorder may underlie ESSENCE problems in childhood
2017, Research in Developmental Disabilities
Citation Excerpt :
The work by Cederlöf et al. (2016) found that individuals with EDS and JHS (n = 1.771) are at increased risk of being diagnosed with autism spectrum disorders (risk ratio = 7.4; 95% confidence interval = 5.2–10.7). According to Tantam et al. (1990), an alteration in connective tissue might lead to brain structural abnormalities or motor developmental delay, which in turn could negatively impact non-verbal social abilities as well as emotion expression. Although current knowledge concerning the specific characteristics of sleep disorders in EDS, and more specifically in people with EDS-HT/JHS, is poor (Metlaine, 2016), there is evidence for a high frequency of sleep problems in this population.
Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of “ESSENCE” (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children.
The present work reviews the clinical and empirical evidence for ESSENCE difficulties in children with EDS-HT/JHS.
A narrative review of the literature was undertaken following a comprehensive search of scientific online databases and reference lists. This included publications of quantitative and qualitative research.
Motor abnormality, hyperactivity/hypoactivity, inattention, speech/language, social interaction, behavioral, sleep, feeding and emotional problems are ESSENCE difficulties for which there is some evidence of an association with EDS-HT/JHS.
Children with EDS-HT/JHS present ESSENCE problems that often coexist and tend to be recognized before the HDCT. Clinicians encountering children with ESSENCE problems should consider the possibility of an underlying HDCT such as EDS-HT/JHS, probably influencing neurodevelopmental attributes in a subgroup of children. Awareness of these interconnected clinical problems might help improve early referral, diagnosis and treatment of EDS-HT/JHS.
Ehlers-Danlos syndrome hypermobility type: Psychological considerations
2016, Journal de Readaptation Medicale
Le syndrome d’Ehlers-Danlos hypermobile (SED-H), décrit aussi comme syndrome d’hypermobilité articulaire, est la maladie héréditaire du tissu conjonctif la plus fréquente. La présentation clinique du SED-H est hétérogène et s’exprime par des manifestations en relation avec une atteinte de nombreux organes en raison de la présence du collagène dans tout le corps. Avec une symptomatologie riche mais négligée par le corps médical, le SED-H est associé à certaines problématiques qui méritent l’attention d’un point de vue psychologique. Ce sont, par exemple, la psychopathologie associée, les déficits cognitifs, les douleurs chroniques et les difficultés dans l’adaptation des enfants au milieu scolaire, entre autres. Ces aspects, qui peuvent aggraver les situations de handicap d’origine somatique, doivent être pris en compte dans la prise en charge globale du SED-H.
Ehlers-Danlos hypermobility type (EDS-HT), also known as joint hypermobility syndrome, is the most frequent hereditary disorder of the connective tissue. The clinical presentation of EDS-HT is heterogeneous and includes disturbances in many organs because of the wide distribution of collagen in the body. This condition, which is still little known even in the medical community, is linked with certain problematic issues that deserve attention from a psychological point of view. There are the associated psychopathology as well as cognitive deficits, chronic pain and the adaptation of EDS-HT children within the school environment among others. These aspects might increase disability and must be considered in the overall management of EDS-HT.
A review of physical growth in children and adolescents with Autism Spectrum Disorder
2015, Developmental Review
Citation Excerpt :
One possible explanation for the increased stature observed in ASD may be an abnormality in connective tissue, which is frequently associated with increased height (e.g. Marfan Syndrome, a connective tissue disorder). To date, this possibility has not been systematically explained, but data indicate that connective tissue development may play a role in the abnormal rate of growth (Howlin, 2001; Tantam, Evered, & Hersov, 1990). The few studies that have investigated connective tissue abnormalities in ASD have found associations between ASD and disorders of connective tissue (Howlin, 2001; Tantam et al., 1990).
Head circumference growth in individuals with an Autism Spectrum Disorder (ASD) has been well characterized in the first two to three years of life and reflects a period of acceleration followed by a period of deceleration when compared with their typically developing (TD) peers. While this altered growth trajectory has been consistently found for head circumference, it is less clear if an abnormal growth trajectory also exists across measures of height and weight. Moreover, most studies have focused on infancy and early childhood, and no longitudinal data have been collected in older children with ASD. This review focuses on the physical growth trajectory of individuals with ASD, and proposes that a general growth dysregulation is present in ASD, and that an endophenotype within ASD may exist that is characteristic of extreme overgrowth. Two possible explanations for a general growth dysregulation are suggested: (1) a connective tissue disorder, which is frequently associated with increased height and disproportionate body ratios; and (2) a dysregulation of the hypothalamic–pituitary–adrenal (HPA) axis, which regulates growth hormones. The existence of a general growth dysregulation, and possible endophenotype, may serve as a potential biological marker in ASD.
Joint hypermobility and the heritable disorders of connective tissue: Clinical and empirical evidence of links with psychiatry
2015, General Hospital Psychiatry
Citation Excerpt :
Structural brain abnormalities as a consequence of the connective tissue abnormality have been proposed to explain an increased risk of autistic symptoms and/or developmental delays in EDS patients [55]. In this sense, Cupo et al. [92] described a patient with EDS and epilepsy presenting with a distorted cerebral structure, probably caused by the connective tissue disorder [55]. Abnormalities included a heterotopic formation in the CNS, also reported in patients with high-functioning autism [56,93].
The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range from benign to life threatening. JH and HDCTs, especially joint hypermobility syndrome, Ehlers–Danlos syndromes and Marfan syndrome, have been associated with psychiatric symptomatology. We explored the existing knowledge concerning this association in order to provide an overview of mental disorders linked to JH/HDCT, as well as the hypotheses proposed to explain such association.
A comprehensive search of scientific online databases and references lists was conducted, encompassing publications based on quantitative and qualitative research, including case reports.
Psychiatric conditions in which there is some evidence of an association with JH/HDCT are anxiety disorders, depression, schizophrenia, neurodevelopmental disorders (autism, attention deficit/hyperactivity disorder, and developmental coordination disorder), eating disorders, personality disorders and substance use/misuse.
Despite the need of more research, the available data highlight the importance of examining psychiatric symptoms in those affected by JH/HDCT and the importance of providing interventions with a multidisciplinary approach. The relationship between JH/HDCT and mental disorders merits further attention in order to improve current knowledge and clarify a possible common etiology.
Asperger Syndrome and its Relationships to Autism
2013, The Neuroscience of Autism Spectrum Disorders
Asperger Syndrome and its Relationships to Autism
2012, The Neuroscience of Autism Spectrum Disorders

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: The authors are grateful to Professor V. Dubowitz for information about A.B.'s hypotonia; to Ms. S. Jenner who performed the most recent psychological assessment; to Drs. B. Neville, A. Childs, L. Wing and J. Corbett for their opinions on the diverse clinical features; to Professor D. Taylor and Dr. E. Garralda who provided useful comments on the case report; and to Dr. M. Super for information about Marfan's syndrome. The authors are especially grateful to the patients and their families.

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Case StudyAsperger's Syndrome and Ligamentous Laxity

Abstract

Am. J. Med.

Psychiatry Res.

Diagnostic and Statistical Manual of Mental Disorders (Third Edition—Revised)

A classification of hand preferences by association analysis

Br. J. Psychol.

Problems of infantile autism

Communication

Die “autistischen Psychopathen” im Kindesalter

Archiv fur Psychiatrie und Nervenkrankheiten

A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus

Clin. Genet.

Neurobiological findings in 20 relatively gifted children with Kanner type autism or Asperger syndrome

Dev. Med. Child Neurol.

Psychiatric disorders in mild and severely mentally retarded urban children and adolescents: epidemiological aspects

Br. J. Psychiatry

Autistic disturbances of affective contact

Nervous Child

Case Study
Asperger's Syndrome and Ligamentous Laxity