a cohort study, comparing 10 PD patients with severe speech impairment (MDS-UPDRS item 3.1 ≥ 3) with 10 PD patients with mild speech impairment (MDS-UPDRS item 3.1 ≤ 2), all submitted to STN-DBS.
a cohort study, comparing 10 PD patients with severe speech impairment (MDS-UPDRS item 3.1 ≥ 3) with 10 PD patients with mild speech impairment (MDS-UPDRS item 3.1 ≤ 2), all submitted to STN-DBS.
a cohort study, comparing 10 PD patients with severe speech impairment (MDS-UPDRS item 3.1 ≥ 3) with 10 PD patients with mild speech impairment (MDS-UPDRS item 3.1 ≤ 2), all submitted to STN-DBS.
LFS compared to no stimulation and HFS, in the absence of l-dopa effect, significantly improved DDK and speech intelligibility for sentence, among patients with severe speech impairment.
UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment.
a cohort study, comparing 10 PD patients with severe speech impairment (MDS-UPDRS item 3.1 ≥ 3) with 10 PD patients with mild speech impairment (MDS-UPDRS item 3.1 ≤ 2), all submitted to STN-DBS.
The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.
a cohort study, comparing 10 PD patients with severe speech impairment (MDS-UPDRS item 3.1 ≥ 3) with 10 PD patients with mild speech impairment (MDS-UPDRS item 3.1 ≤ 2), all submitted to STN-DBS.
We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders.
Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders.
Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders.
The evidence support the notion that PRKG2 and RASGEF1B are critical genes for intellectual disability and speech defect, and the heterogeneous nuclear ribonucleoprotein HNRNPD and HNRNPDL (previously known as HNRPDL) genes are associated with growth retardation and hypotonia.
The evidence support the notion that PRKG2 and RASGEF1B are critical genes for intellectual disability and speech defect, and the heterogeneous nuclear ribonucleoprotein HNRNPD and HNRNPDL (previously known as HNRPDL) genes are associated with growth retardation and hypotonia.