Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.

• As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Psykiatri (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Psychiatry (hsv//eng)

Nyckelord

Adolescent

Autistic Disorder

Diagnosis

Physiopathology

Rehabilitation

Brain

Abnormalities

Pathology

Physiopathology

Child

Child

Preschool

Diagnostic and Statistical Manual of Mental Disorders

Electroencephalography

Female

Goldenhar Syndrome

Diagnosis

Physiopathology

Rehabilitation

Humans

Infant

Infant

Newborn

Magnetic Resonance Imaging

Male

Mental Retardation

Diagnosis

Physiopathology

Neuropsychological Tests

Patient Care Team

Pregnancy

Prospective Studies

Risk Factors

Tomography

X-Ray Computed

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