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245 Diagnosis of unilateral cerebellar hypoplasia in 10 year old child following referral for autism spectrum disorder assessment
  1. Catherine Bushill,
  2. Jessica Slater
  1. UK


Background A 10 year old only child of Polish parents was referred via the concerning behaviours pathway to assess her for developmental impairment. Her medical history was complex, beginning with being born prematurely at 23+4 weeks of gestation. Despite follow up until the age of 5 years she did not meet criteria for further investigation or follow up at the time. Investigations by community paediatrics revealed significant organic neurological abnormalities as well as important psycho-social issues, culminating in a diagnosis of both Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD).

Objectives Interesting case highlighting important aspects of Community Paediatrics.

Methods The child was seen by the community paediatrician, who listened to concerns of her parents, looked back in depth at the patient’s history and referred onto the relevant teams for assessment of her needs.

Results The community paediatrician was an advocate for the patient and parents in obtaining the support she needed for her education and development. When requests were denied for an Education, Health and Care Plan (EHCP), and a speech and language assessment referral rejected due to the child being bilingual, the community paediatrician was able to work alongside a Special Educational Needs and Disabilities (SEND) advocate to access these for the patient.

Despite support from her parents, she had struggled in mainstream school - not only with impairment in gross and fine motor skills, but also with cognition. She had low self-esteem and found making friends hard. Due to the Covid19 pandemic she had home-schooling and the combination of increased supervision, working at her own pace and reduced pressure on social skills she had been thriving. However the pandemic has delayed assessment by speech and language, occupational and physical therapy.

Following discussion of parental concerns regarding cerebral palsy, and having a grossly normal neurological examination, an MRI was requested which showed almost complete absence of the left cerebellar hemisphere thought to be as a result of perinatal insult. Armed with MRI results the child was found to have an abnormal cerebellar examination.

Conclusions This important case highlights the benefits of a multi-disciplinary team working closely with school and family. This case demonstrates the central role of the community paediatrician in providing holistic care of patients and how they are well placed to advocate for such patients and their families. This patient was referred for ASD assessment, but for this patient ADHD and ASD are part of her picture, but not the only concern.

Importance of investigating based on new assessment is highlighted. Despite MRI previously being felt unnecessary, it revealed important findings which will help to more thoroughly understand her needs. Previous assessment may lack vital information or the patient‘s presentation may have evolved.

This case also illustrates possible health inequalities for patients for whom English is not their first language. Language barriers are associated with inequalities in access to and quality of healthcare delivered and may have contributed to the late diagnosis of cerebellar hypoplasia. It would be interesting to see if cultural differences could also have had an impact.

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