I met the young Grégoire L'HEUREUX born on 10.08.2002, soon to be 17 years old, who is being followed for learning difficulties with behavioral disorders labeled pervasive developmental disorder.
Grégoire is the first child of the family, with a younger brother in good health. The family investigation reveals no consanguinity between the parents, who are now separated. There are no very specific antecedents on either side. Both parents are in good health.
As for Grégoire, of whom I did not have the health record, there were no issues during pregnancy and delivery.
Motor acquisitions progressed normally with walking acquired around the age of 1. It was mainly the language delay that alerted those around him. Language only really appeared around the age of 6. He has no very specific antecedents of somatic illness.
There was an assessment at CRTLA in 2009, which concluded with a personality and relational disorder of the pervasive developmental disorder type.
He was schooled in SSP until Grade 9 and is now integrated into a SELC. He seems satisfied with his care. Currently, he is learning to read, write, and count. Writing remains difficult. He would have a level corresponding to approximately Grade 4.
On examination, his height is 1.70 m, which is -1DS, with a weight of 89.8 kg at +1.5DS and a head circumference of 56 cm at the average. A slightly ogival palate, flat feet, slight genu valgum, as well as a bilateral single palmar crease are noted. There is slight hypotelorism and a thin upper lip. The forehead is high. The osteotendinous reflexes are brisk. The rest of the somatic examination is normal.
In total, pervasive developmental disorder with learning difficulties and initially significant language delay that does not fit into a specific syndrome at first glance.
To move forward, I am requesting a study by ACPA or CGH ARRAY to search for chromosomal microremodeling.
I will keep you informed of the results.
If the result is normal, we will likely proceed to an exome study, which will require samples from both parents.
I remain at your disposal.
Best regards.