Coincident Down's and Tourette syndromes: three case reports.

Area of Science:

• Neurogenetics and Developmental Disorders
• Clinical Neurology and Psychiatry

Background:

• Down syndrome (trisomy 21) is a genetic disorder associated with intellectual disability and characteristic physical features.
• Tourette syndrome is a neurological disorder characterized by repetitive, involuntary movements and vocalizations (tics).

Observation:

• Presents three patients with Down syndrome and co-occurring Tourette syndrome.
• Two patients had trisomy for a G-group chromosome; one had mosaic trisomy.
• All patients exhibited typical features of Gilles de la Tourette syndrome, including multiple motor and vocal tics.

Findings:

• This report details the first observed association between Down syndrome and Tourette syndrome.
• Tourette syndrome has previously been documented in other chromosomal abnormalities, but not specifically Down syndrome.
• The study highlights the potential link between genetic predispositions and neurological tic disorders.

Implications:

• Hypothesizes that neurotransmitter imbalances in Down syndrome may predispose individuals to basal ganglia dysfunction, leading to tics.
• Suggests that serotonin metabolism abnormalities could play a role in the development of tics in individuals with Down syndrome.
• This finding may inform future research into the neurobiological underpinnings of both conditions and their co-occurrence.