Autism spectrum conditions in individuals with Mobius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.

• As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.

Ämnesord

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

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

Nyckelord

Abnormalities

Multiple

Classification

Diagnosis

Psychology

Blindness

Diagnosis

Psychology

Brain

Pathology

Child Development Disorders

Pervasive

Classification

Diagnosis

Child

Preschool

Choanal Atresia

Classification

Diagnosis

Psychology

Coloboma

Classification

Diagnosis

Psychology

Deafness

Diagnosis

Psychology

Developmental Disabilities

Classification

Diagnosis

Psychology

Diagnostic and Statistical Manual of Mental Disorders

Disability Evaluation

Female

Goldenhar Syndrome

Classification

Diagnosis

Psychology

Heart Defects

Congenital

Classification

Diagnosis

Psychology

Humans

Infant

Intellectual Disability

Diagnosis

Psychology

Interview

Psychological

Magnetic Resonance Imaging

Male

Mobius Syndrome

Classification

Diagnosis

Psychology

Neuropsychological Tests

Sweden

Syndrome

Autism spectrum conditions

Möbius

Diagnostics

OAV

CHARGE

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)