Dear Colleague,
I reviewed with great interest the child Bernard PETRIE born on 12/05/2010, who is being followed for a complex picture of global developmental disorders with intellectual deficiency and non-progressive cerebellar ataxia without a current label. 
He continues to make regular progress with good integration in SELC. 
Medically, there have been no more seizures, and you are gradually reducing the treatments. However, a diagnosis of autism spectrum disorder was made in 2022 by Dr. GUÉRETTE from the autism center. 
A somewhat new fact is, on one hand, a really developed appetite with little satiety, leading to a significant weight gain that has resulted in a stable mild obesity for the moment. 
Furthermore, the parents are still very much in demand of a more precise diagnosis for a new pregnancy project. 
On examination today, we note a weight of 46 kg (>90th p) for a height of 140 cm (average) and a head circumference of 52 cm (-0.5 SD). The BMI is therefore 23.5. We still note these morphological particularities with moderate enophthalmia and somewhat narrow palpebral fissures at the top and outside. The fingers are rather long and slender. I did not find any anomalies in the teeth, skin, spine, or appendages. We still note this non-progressive ataxia. 
In total, we discuss with the mother the following elements: 
- Given this weight gain and a period of hypotonia with feeding difficulties in the neonatal period, I propose, even if the picture is not very evocative, to ensure the absence of methylation anomalies in the 15q11q13 region. 
- I will contact the molecular genetics laboratory to obtain the latest results from the studies already initiated. 
Finally, if all of this is normal, I would willingly propose to include him in a genome screening strategy. 
I will keep you informed and best regards.