Dear Colleague,
I thank you for referring the child Malthe JOHANSEN born on August 21, 2004, aged 11 years and 4 months, for advice regarding a child presenting with intellectual deficiency. 
Malthe was born at 39 weeks of amenorrhea following an unremarkable pregnancy. He was born by cesarean section. The birth weight was 3090 g (39th p.), the birth height was 49.5 cm (58th p.), and the birth head circumference was 32.8 cm (16th p.). The Apgar score was 9/10. 
Malthe presented episodes of neonatal seizures that began on day 3 and evolved into status epilepticus on day 6. There have been no more seizures under treatment since he was about 3 years old. After a gradual cessation of treatments, he has not been on antiepileptic medication since 2016. 
In terms of psychomotor development: sitting was acquired around 12 months. He began to babble around 13 months. Two-handed grasping was acquired at 10 months. He currently presents significant language delay associated with dysarthria. 
Orthopedically, Malthe presents bilateral flat feet with moderate valgus hindfoot, a walking disorder with a toe walking pattern, and knee flexion contracture. 
Malthe benefits from speech therapy due to oral difficulties with a still mixed diet. 
An assessment was conducted at the Autism Resource Center, concluding with autism spectrum disorder associated with intellectual deficiency, with restricted interests and repetitive and stereotyped behaviors. 
During a control MRI performed in 2006 during an episode of status epilepticus, extensive perisylvian polymicrogyria was evidenced. 
On clinical examination today, he weighs 24 kg (<-2 SD), measures 129.5 cm (-2.5 SD). Cardiopulmonary auscultation is normal, the abdomen is depressible, painless, without hepatosplenomegaly. The palpebral fissures are horizontal. He presents well-formed, normally shaped ears. A short philtrum, fleshy lips are noted, and there are no anomalies of the extremities; the spine is straight. 
In total, I request a genetic assessment with a pan-genomic analysis of DNA by CGH array as well as a study of the FMR1 locus involved in fragile X syndrome in a child presenting with intellectual deficiency associated with autism spectrum disorders in a context of cortical dysplasia with polymicrogyria and neonatal epilepsy. 
I will contact Malthe and his family with the results of the genetic assessment as soon as they are received. 
Please accept, Dear Colleague, the expression of my best regards.