Dear Colleague,
I received in consultation on June 15, 2023, the young Lucas, born on April 7, 2018, accompanied by his parents. This consultation was motivated by parental concerns regarding the child's overall development. Lucas is enrolled in the final year of preschool with part-time SEA support. He benefits from a multidisciplinary approach including speech therapy (2 sessions per week) and psychomotor therapy (1 weekly session). 
In terms of language, Lucas presents a significant expressive delay. He mainly uses isolated words and a few simple phrases of 2-3 words. His comprehension seems better but remains below his age level. The parents report notable progress since the beginning of speech therapy. 
Regarding motor skills, Lucas presents global hypotonia and motor clumsiness. He acquired walking at 20 months. Currently, he runs but in a poorly coordinated manner and falls frequently. He struggles to go up and down stairs alternating feet. His fine motor skills are also affected, with difficulties in drawing and using cutlery. 
Behaviorally, Lucas is described as a calm and sociable child. He enjoys the company of other children but has difficulty interacting appropriately. He has restricted interests, particularly in trains and puzzles. 
His autonomy is delayed for his age. Lucas is not yet night-time potty trained and needs help dressing and undressing. He eats alone but with difficulty. 
On clinical examination, Lucas measures 105 cm (-1 SD) for a weight of 17.5 kg (average) and a HC of 51 cm (average). There is diffuse ligamentous hyperlaxity and a fine-featured face with slightly low-set ears. The neurological examination is otherwise unremarkable. 
Given this clinical picture suggestive of a neurodevelopmental disorder, I propose to conduct a genetic assessment including a CGH-array and a panel of neurodevelopmental genes. I have also prescribed a complete auditory and visual assessment. 
I will see Lucas again in 6 months to review the evolution and the results of the additional examinations. In the meantime, I remain at your disposal for any further information.
Best regards,