Dear Colleague,
I received in consultation on May 22, 2023, the young Léa, born on September 3, 2014, accompanied by her parents. This consultation follows the recent discovery of a genetic anomaly in Léa's maternal aunt. Léa is currently enrolled in Grade 3 with a SEA due to learning difficulties, particularly in reading and mathematics. She has been receiving weekly speech therapy since the age of 6. 
Developmentally, Léa presented a slight delay in acquiring walking (18 months) and language (first words at 2 years). Currently, her language is fluent but there is a slight dysarthria and difficulties in understanding complex instructions. 
The parents report significant fatigue in Léa, who often falls asleep shortly after returning from school. Her nighttime sleep is disturbed, with frequent awakenings and difficulties falling asleep. 
Behaviorally, Léa is described as an anxious child, with a tendency towards social isolation. She has restricted interests, particularly in drawing and manual activities. 
The clinical examination reveals a weight of 24 kg (-1 SD), a height of 125 cm (-1.5 SD), and a HC of 51 cm (-1 SD). There is diffuse joint hyperlaxity. The neurological examination reveals a slight kinetic ataxia. 
In terms of family history, I recall that Léa's maternal aunt is a carrier of a pre-mutation of the FMR1 gene, recently discovered during an infertility assessment. Léa's mother is asymptomatic and her genetic status is being evaluated. Léa's older brother, aged 11, shows no clinical signs and his development is harmonious. 
Given the family context and Léa's difficulties, I propose to conduct a targeted genetic assessment, including the search for the familial mutation of the FMR1 gene. I have also prescribed a complete neuropsychological assessment to better characterize her cognitive difficulties. 
I will see Léa again in 3 months to review the results of the additional examinations and the evolution of her situation. In the meantime, I remain at your disposal for any further information.
Best regards,