Hand Stereotypies in Rett Syndrome

Ferreira, Matheus Gomes; Teive, Hélio Afonso Ghizoni

doi:10.15844/pedneurbriefs-34-2

Cited by 5 publications

(5 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…13 Hand clapping/tapping are more frequently found than wringing/washing. 14 Other stereotypies previously described in Rett syndrome include retropulsion of the head, trunk rocking, shifting weight from one leg to the other, feet twirling, and foot tapping. 15 Stereotypies in Rett syndrome are lifelong findings, although their intensity and complexity decreases as dystonia, rigidity, and tremor increase with age.…”

Section: Discussionmentioning

confidence: 98%

Gratification Disorder as an Early Marker of Rett Syndrome: Two Pediatric Case Reports

Singhapakdi

Maertens

2020

Journal of Pediatric Neurology

View full text Add to dashboard Cite

Gratification disorder (GD) is a form of stereotyped posturing with mechanical pressure applied to the genitalia without manual manipulation and is generally considered benign. Here, we describe two patients who exhibited GD. Both were later diagnosed with Rett syndrome via genetic sequencing. In both patients, GD preceded the onset of the hallmark hand stereotypies of Rett syndrome. We therefore conclude that GD is not as benign as previously assumed and in fact can be an early sign of Rett syndrome. Further studies are needed to evaluate the prevalence of GD in Rett girls with the MECP2 genotype.

show abstract

Section: Discussionmentioning

confidence: 98%

Gratification Disorder as an Early Marker of Rett Syndrome: Two Pediatric Case Reports

Singhapakdi

Maertens

2020

Journal of Pediatric Neurology

View full text Add to dashboard Cite

show abstract

“…They normally appear after developmental regression and include midline clapping/tapping, hand mouthing, and wringing/washing. ( Stallworth et al, 2019 ; Ferreira and Teive, 2020 ). While hand stereotypies remain prevalent over time, the nature of the stereotypies may change.…”

Section: Introductionmentioning

confidence: 99%

“…The number of hand stereotypies and the severity of mouthing is higher in the pediatric population. ( Ferreira and Teive, 2020 ). Hand stereotypies also correlate with the type of MECP2 mutation.…”

Section: Introductionmentioning

confidence: 99%

“…Individuals with R106W, R168X, R255X, R270X, insertion, and large deletion mutations develop hand stereotypies earlier, ( Stallworth et al, 2019 ), and they display the highest frequency and largest variety of hand movements. ( Ferreira and Teive, 2020 ). Although clinical severity worsens with decreased hand function, hand stereotypies have little correlation with overall clinical severity as assessed with the Clinical Severity Scale (CSS) and Motor Behavior Assessment (MBA).…”

Section: Introductionmentioning

confidence: 99%

“…Although clinical severity worsens with decreased hand function, hand stereotypies have little correlation with overall clinical severity as assessed with the Clinical Severity Scale (CSS) and Motor Behavior Assessment (MBA). ( Stallworth et al, 2019 ; Ferreira and Teive, 2020 ). Other movement disorders, including tremor, ataxia, hypertonia, and dystonia, are also seen in Rett patients.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

MECP2-related disorders while gene-based therapies are on the horizon

Allison,

Maletic-Savatic,

Pehlivan

2024

Front. Genet.

View full text Add to dashboard Cite

The emergence of new genetic tools has led to the discovery of the genetic bases of many intellectual and developmental disabilities. This creates exciting opportunities for research and treatment development, and a few genetic disorders (e.g., spinal muscular atrophy) have recently been treated with gene-based therapies. MECP2 is found on the X chromosome and regulates the transcription of thousands of genes. Loss of MECP2 gene product leads to Rett Syndrome, a disease found primarily in females, and is characterized by developmental regression, motor dysfunction, midline hand stereotypies, autonomic nervous system dysfunction, epilepsy, scoliosis, and autistic-like behavior. Duplication of MECP2 causes MECP2 Duplication Syndrome (MDS). MDS is found mostly in males and presents with developmental delay, hypotonia, autistic features, refractory epilepsy, and recurrent respiratory infections. While these two disorders share several characteristics, their differences (e.g., affected sex, age of onset, genotype/phenotype correlations) are important to distinguish in the light of gene-based therapy because they require opposite solutions. This review explores the clinical features of both disorders and highlights these important clinical differences.

show abstract