Dear Colleague,
I reviewed the young Julien Lemieux born on 29/11/2012 in consultation on 17/01/2023, accompanied by his two parents. 
This consultation was notably motivated by the fact that we had attempted, following the last consultation in 2020, to perform a complete exome examination on Julien, which unfortunately could not be done for technical reasons. 
Since the last consultation, Julien is doing well. He is now in a SELC with multidisciplinary care associated with private speech therapy, working on oral language and also on pictograms, but Julien only partially engages with the latter. 
In terms of language, he points more, makes more sounds than before, and is more engaged in social interactions. I recall that an assessment at the ARC had confirmed the typical diagnosis for Julien. 
His behavior does not seem to pose difficulties. He does not exhibit any hetero-aggressiveness. However, he can still occasionally bang his head or throw his glasses when frustrated. 
He wears glasses for astigmatism. It is difficult to know exactly what his level of vision is when he wears his glasses. He is also easily distracted by surrounding objects. 
His autonomy is relatively limited as he does not help much with dressing and undressing. Fine motor skills seem to be a concern for him, as well as gross motor skills. 
He is still being monitored for epilepsy, with a recent attempt to stop treatment that led to a recurrence of two hemicorporal seizures, and the resumption of MICROPAKINE has allowed for the non-recurrence of his seizures and immediate normalization of the EEG. 
On clinical examination today, he measures 1 meter 28 (-2 SD) with a weight of 22 kg (<-2 SD), and a HC of 47 cm (-4 SD). He still presents the same facial features, namely a tendency towards enophthalmia, rather rounded cheeks, and dysplastic ears. The overall shape of his face resembles that of his mother. There is no obvious strabismus today in Julien. Ocular follow-up seems correct. I was unable to see his teeth, but I noted that the two upper incisors were quite large, with apparently normal quality. In terms of his back, he remains very stiff with a tendency to exaggerate curvatures. No scoliosis was visualized today, pending an incomplete examination. The palmar creases are not very pronounced. No skin anomalies. 
Discussion and conclusion: 
I reviewed Julien today, who presents an autistic disorder associated with a language delay, epilepsy, and microcephaly, as well as unique facial features. 
The parents are seeking explanations for Julien's difficulties. I remind them that there are no notable family antecedents. Given the current impossibility of performing this exome examination, I propose that the parents proceed directly to genome analysis. 
I remain at their complete disposal as well as yours in the meantime. 
Best regards.