Dear Friend,
I met in consultation at your request the child Lucas ENGEL, born on 18/02/2016, aged 2 years and 4 months for global neurodevelopmental disorder and behavioral particularities. 
He is the first and only child of a non-related couple. The family history reveals a history of disability (neurodevelopmental disorder) in the daughter of a paternal cousin of the mother, apparently linked to Down syndrome. 
The delivery occurred at term (38 weeks + 2 days) by vaginal delivery with good adaptation to extrauterine life. The AEP were positive on the right and left. 
The birth measurements were as follows: 
Weight: 2950 g (43rd p) 
Height: 47 cm (24th p) 
Head circumference: 33.5 cm (10th p) 
Psychomotor development: 
Walking was acquired at 27 months. Lucas presented postural plagiocephaly linked to torticollis, which was reduced by physiotherapy. Physiotherapy was then resumed at 12 months due to motor delay. Daytime and nighttime toilet training is not acquired. Lucas presents a language delay. He does not engage in symbolic play. 
Behavior: 
Lucas approaches others little. He is interested in his environment and shows curiosity about the objects shown to him. 
Feeding: 
Difficulties during the introduction of solid foods. 
Childcare: 
He attends daycare 2 days a week. 
Additional examinations were performed due to vertical nystagmus noted at 2 months, with favorable evolution. 
As part of the global neurodevelopmental disorder assessment, an ENT evaluation was performed last January. The audiogram did not show frank deafness within the limits of the examination. 
Rehabilitations: 
Weekly psychomotricity in private practice 
Speech therapy once a week at CDC
Clinical examination today: 
Civil age: 2 years and 4 months 
Weight: 14 kg (75th percentile) 
Height: 96.5 cm (+1.5 SD) 
Head circumference: 45.5 cm (-3 SD) 
The clinical examination finds postural plagiocephaly and small morphological particularities (bilateral single palmar crease, slightly low-set ears, palpebral fissures oriented upward and outward, flat philtrum, and thin upper lip). He accepts to follow some instructions but categorically refuses to perform others, such as bending down to touch his feet. The skin examination is normal except for a hypochromic spot on the knee. The abdomen is soft, depressible, and painless without hepatosplenomegaly. The testicles are high positioned but can be lowered into the scrotum. Axial and peripheral hypotonia. Hyperlaxity of the fingers. The patellar and Achilles DTRs are present and symmetrical, not brisk. 
In total, global neurodevelopmental disorders associated with behavioral and morphological particularities. 
I request an analysis by CGH-array, a search for fragile X syndrome, and inclusion in a genome study. 
I remain at your disposal for any further information. 
Best regards.