Autistic spectrum disorder (ASD) is characterised by persistent deficits in the ability to initiate and to sustain reciprocal social interaction and social communication, and by a range of restricted, repetitive and inflexible patterns of behaviour, interests or activities that are clearly atypical or excessive for the individual's age and sociocultural context
Aetiology No clear unifying pathological mechanism - combination of environmental, biological, and genetic factors M:F ratio about 4:1 Suggested link to sex hormones Some have suggested the difference is due to misdiagnosis of girls Comorbidities frequent e.g. depression, anxiety, EDs, Tourettes, OCD, ADHD, learning disabilities Risk factors Rubella in the pregnant mother ASD and gender identity: 8-10% of children and adolescents seen at GID clinics meet the clinical diagnostic critera for autism (3-4 x more common than in general population) Studies in girls with congenital adrenal hyperplasia showed more traits of ASD than controls and higher levels of gender dysphoria Pathophysiology Neuroanatomy of autism Frontal lobes, amygdala, and cerebellum appear pathological in autism Neurochemistry of autism Glutamine receptors, GABA and serotonin seem implicated GABA has a key role in the regulation of early developmental stages of cell migration, neuronal differentiation and stages of maturation Glutamate is an essential exctitatory neurotransmitter which dysregulation can lead to neuronal damage Serotonin neurotransmitter system has a critical role in the regulation of crucial steps of neuronal development The role of catecholamines and ACh is still poorly understood Clinical presentation Social communication Generally good language skills but find it hard to grasp the underlying meaning of conversation Difficulties understanding jokes, idioms, metaphors and sarcasm Voices often sound monotonous Language can be pedantic and idiosyncratic Often have narrow interests which dominate their converations (lack of reciprocity) Social interaction Difficulties picking up non-verbal cues Appear self-focused and lacking in empathy, when in fact they are simply trying to figure out social situations Continually struggle to make and sustain personal and social relationships Social imagination Difficulties thinking flexibly and in abstract ways Inability to understand other people's points of view, taking things literally Difficulties applying knowledge and skills across settings with different people Difficulties projecting themselves into the future or planning goals sensibly Repetitive impairment Stereotyped or repetitive motor movements, use of objects or speech Insistance on sameness, inflexible adherence to routines, or ritualised patterns of behaviour or nonverbal behaviour Highly restricted, fixated interests that are abnormal in intensity of focus Hyper- or hypo- reactivity to sensory input or unsual interest in sensory aspects of the environment Investigations Diagnostic tools Good quality developmental history and collateral history from parents, other relatives, schools, employers, partners etc. Screening questionnaires and semi-structured interviews Standardised assessment tools - ADOS Ultimately a subjective clinical judgement Essential critera Symptoms must be present in the early developmental period Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning (regardless of age) Disturbances are not better explained by other mental health problems, intellectual disability, or global developmental delay Management Treatment is mainly through education and social interventions Medication rarely required other than to treat main comorbidities Risperidone is licensed for management of severe aggression and significant self-injury 
Made with Bullet