EHLERS-DANLOS SYNDROME (EDS) represents a group of genetically heterogeneous connective tissue disorders. Recent articles have suggested associations between connective tissue disorders and autistic disorders.1,2 We encountered an adolescent with EDS and autistic disorder.

The patient was a 17-year-old boy at the time of writing. He gave the authors informed consent to publish this letter. His mother had been diagnosed with EDS. At birth, no special findings were observed. He was stiff to hold and avoided eye contact during infancy. He also had a particular dislike of loud noises, which has decreased with age. Although he started walking at 1 year, language development was delayed and he did not say any meaningful words until 3 years of age. He resisted new tasks, and pressure to do these often precipitated tantrums. He attended a day nursery from 3 years of age, where he always played alone and not with other children. He showed anomalous interest in trains and cars, and arranged his toys in a line. He enrolled in ordinary classes in elementary and junior high schools and his intellectual development was not delayed during those periods. After starting elementary school at 6 years of age, he was unable to sit for school lessons and was withdrawn around others. His parents then took him to a prefectural children's hospital when he was 7 years old, at which point autistic disorder and EDS were diagnosed. After graduating from junior high school, he was admitted to an elite high school. During high school he became intensely interested in video games. At 17 years of age he was admitted to Asahikawa City Hospital after an episode of violence against his mother when she interrupted his video game. On physical examination he had highly flexible fingers and toes, hypermobile joints, and skin hyperelasticity. Psychiatric examination indicated a lack of demonstrated empathy, failure to develop friendships with others, and impaired ability to initiate or sustain social conversations. According to the Japanese version of the Wechsler Intelligence Scale, third edition (WAIS-III), his full-scale intelligence quotient (IQ) was 124, verbal IQ was 130, and performance IQ was 112. Marked deviations were seen in some subtests of the WAIS-III, with very high performance in Vocabulary and Information, and very low performance in Letter–number sequencing and Picture completion. Magnetic resonance imaging (MRI) of the head and encephalography yielded results within normal limits. These findings suggested autistic disorder (high-functioning autism) according to DSM-IV-TR criteria.

Collagens represent a large family of structurally related extracellular matrix proteins essential for development, cell attachment, platelet aggregation and tensile strength in connective tissues such as bone, skin, ligaments, tendons, and blood vessels.3 Cupo et al. described abnormalities in the development of the central nervous system (CNS) in EDS, including a heterotropic formation in the CNS.4 Although no CNS abnormality was evident on MRI in the present case, loss of elasticity and strength of collagen presumably contributed to structural failure in connective tissues of the CNS. We speculate that associations exist between connective tissue diseases and autistic disorders, and that connective tissue abnormalities may contribute to autistic symptoms.


  1. Top of page