MHM Magazine

There is no significant medical history and physical examination is non- contributory. In the consultation, he avoids eye contact, has very limited vocabulary, walks on his toes, keeps watching the same video on mum’s phone repeatedly, refuses to point when asked to identify items in room. Mum is a HR manager at a government facility but is reluctant to have the child assessed by psychiatrists and only consulted the general practitioner at the teacher’s insistence as she feels the child will be fine as he grows older. Clinical features as in the case described above typically include impaired social interaction as evidenced by poor eye contact, poor response to name, lack of showing and sharing, no gesturing by 12 months, and loss/delay of language or social skills. Young preschool children display limited pretend/imaginary play, intensely focused interests, and rigidity in routines. School going children may demonstrate concrete thinking, have trouble empathising, and even if they show an interest in peers, they lack social skills. They tend to prefer very rigid and structured routine, have difficulty coping with changes in routine or environment and often use self-stimulatory behaviour to allay their anxiety. Risk factors for ASD include genetic vulnerability and epigenetic mechanisms in the pre-peri and post-natal period. Genetic disorders associated with ASD include fragile X, tuberous sclerosis, Down syndrome and Rett syndrome. With the increased use of chromosomal microarray, several sites (chromosome X, 2, 3, 7, 15, 16, 17, and 22 in particular) have been associated with increased ASD risk. Other risk factors include older parental age, premature babies, obstetric complications and exposure to drugs such as sodium valproate has also been more recently linked to neurodevelopmental concerns. The diagnosis of ASD is still primarily a clinical assessment as there is no diagnostic test. The American Academy of Paediatrics (AAP) guidelines recommend regular developmental surveillance checks e.g. at 9,15 and 30 months. Clinical assessment includes parent/caregiver interviews, patient interviews, direct observation of patients, and detailed clinical assessments that encompass a thorough review of developmental history, milestones, medical history and family history for ASD or other neurodevelopmental disorders. A physical examination is essential including a comprehensive neurological examination and relevant investigations must be considered to exclude other neurodevelopmental disorders. There are several screening tools for ASD include the Modified Checklist for Autism in Toddlers, Revised, with Follow-up (M-CHAT- R/F) and Autism Spectrum Screening Questionnaire (ASSQ) that are available for children from age five. Children suspected of having ASD should be referred to specialist services for a full workup and appropriate intervention. Children with ASD have high rates of comorbidity. Common co-occurring disorders include intellectual disability and epilepsy. Common behavioural disorders associated with ASD include ADHD, sleep and anxiety disorders. The management of ASD includes early identification and intervention by a multi-disciplinary team based on the severity of ASD and comorbidities. Non-pharmacological management may include speech therapy, occupational therapy, and psychotherapy with a clinical psychologist. Older children may require an educational assessment for appropriate school placement. Children with very restricted diets (only eat the same food with very little variation in diet) may benefit from dietary intervention to improve their diets and prevent complications such as nutritional deficiencies and constipation. Pharmacological treatments may be used if therapy is not adequate and to target some symptoms eg: hyperactivity or aggression. Medication options include psychostimulants, antipsychotics, antidepressants, and alpha-2 adrenergic receptor agonists (clonidine). These medications may provide symptomatic relief of core symptoms of ASD or manage the symptoms of comorbid conditions such ADHD. Parents must be cautioned over the use of many alternative treatments that have not shown any efficacy eg: cannabis oil. Studies have shown that methylphenidate may be useful in alleviating hyperactivity symptoms better in children with ADHD only than in children with ASD and ADHD. Many children with ASD may be more vulnerable to its side effects including irritability and stereotypic behaviours, gastrointestinal and sleep problems. Hence in children with ASD prescribe lower doses on initiation and monitor response. If a drug is not effective, then stop and avoid polypharmacy. Low dose second generation antipsychotic drugs such as risperidone and aripiprazole can decrease irritability and agitation in ASD. Caution is needed when prescribing these medications, especially for young patients with ASD, due to risk for metabolic syndrome and sedation. Ideally these patients should be referred to a specialist for assessment and further management. Antidepressant drugs such as selective serotonin reuptake inhibitors (SSRIs) are also prescribed to older children with ASD to reduce repetitive behaviours and improve anxiety and aggression, though the overall therapeutic benefits of these agents remain unclear. Other pharmacological agents such as the alpha-2 adrenergic receptor agonists such as clonidine have shown benefits in treating hyperactivity, aggression and anxiety , as well as improving sleep disturbances in ASD patients. Support for caregivers and the family including other siblings is essential in providing a holistic treatment package. There are several useful online resources and non- governmental organisations to support carers and people living with autism as they grow older. Conclusion Screening, early detection and intervention are critical to improving functional outcomes. Therapy with a multi-disciplinary team and appropriate school placement are critical to improving outcomes. Providing support for the patient and caregivers must also be an integral part of care. References available on request. MHM | 2024 | Volume 11 | Issue 3 | Navigating Autistic Spectrum Disorders: from Diagnosis to Intervention MHM I sue 3 | 2024 | MENTAL HEALTH MATTERS | 15 MHM