Synonym(s): Billard-Toutain-Maheut syndrome FOXP2-associated dysphasia Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: F80.1 OMIM: 600117 UMLS: C1838630 MeSH: - GARD: 1823 MedDRA: - The documents contained in this web site are presented [orpha.net]

Expressive language delay is the most common developmental presentation. [healthofchildren.com]

Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum. [rarediseases.org]

Data are presented that suggest that at least some cases of dysphasia are associated with an abnormality in a single dominant gene. [wwww.unboundmedicine.com]

The typical presentation of a patient with chronic aspiration is with recurrent pneumonia or chemical pneumonitis (See Figure 1). [clinicaladvisor.com]

The diagnosis of a particular seizure type, and of a specific type of epilepsy ( epilepsy syndrome ), directs the diagnostic workup of these patients and their initial therapy. ( Slide 2 & 3 ) Table 1 Annotated International Classification of Epileptic [ncbi.nlm.nih.gov]

The seizures were easily controlled by antiepileptic treatment in all patients except one. [ncbi.nlm.nih.gov]

Treatment Centers Edit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.fandom.com]

Treatment for expressive language disorder Treatment options depend on the severity of the impairment. [betterhealth.vic.gov.au]

Treatment - Developmental dysphasia familial Not supplied. Resources - Developmental dysphasia familial Not supplied. [checkorphan.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Diagnosis - Developmental dysphasia familial * Concentration -- Home Testing * ADHD -- Home Testing * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests * Mental Health: Home Testing: o Home Emotional Stress Tests Prognosis [checkorphan.org]

In any case, if it was a maturational delay, dysphasia would have a better prognosis, since over time it could be compensated. In case it was due to brain damage, the prognosis would be less positive. [lifepersona.com]

PMID: 21157890 Prognosis Küpeli S, Yalçın B, Bilginer B, Akalan N, Haksal P, Büyükpamukçu M Pediatr Blood Cancer 2011 Feb;56(2):206-10. Epub 2010 Oct 25 doi: 10.1002/pbc.22730. [ncbi.nlm.nih.gov]

Prognosis is poor even with anticonvulsant medications. [hawaii.edu]

What is the prognosis for people with PPA? This is a difficult question to answer as there has been very little research into it and it can be extremely variable from person to person. [raredementiasupport.org]

The book is designed to supplement standard textbooks that provide detailed information on etiology, pathogenesis and therapeutic controversies in pediatric clinical neuroscience. [books.google.com]

Abstract This paper investigates the etiology of developmental dysphasia and its linguistic properties. Data are presented that suggest that at least some cases of dysphasia are associated with an abnormality in a single dominant gene. [wwww.unboundmedicine.com]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

Some authors think genetic factors are implicated in the etiology of developmental dyslexia. In acquired dyslexia, acquired reading and writing skills are lost, due to brain damage. [jped.com.br]

Etiology Epilepsia 2017 Mar;58(3):e40-e43. Epub 2017 Jan 18 doi: 10.1111/epi.13666. PMID: 28098945 Küpeli S, Yalçın B, Bilginer B, Akalan N, Haksal P, Büyükpamukçu M Pediatr Blood Cancer 2011 Feb;56(2):206-10. [ncbi.nlm.nih.gov]

Epidemiology Population-based epidemiologic data related to acquired epileptic aphasia (AEA) in the United States are limited. The Children's Hospital and Medical Center (Seattle, Wash) treats 1-2 new cases of acquired epileptic aphasia each year. [emedicine.medscape.com]

Epidemiology The aetiology is damage or disease of the brain and so it is most common in old people. Disease is usually vascular, neoplastic or degenerative. [aacknowledge.org.uk]

There is a problem, however, with this evidence from the point of view of genetic epidemiology. This family was singled out for study precisely because it displayed this pattern. [projects.chass.utoronto.ca]

EPIDEMIOLOGY AND PATHOPHYSIOLOGY A elementary truce of the tumor type on the side of which surgery is planned is noted to optimize the anesthetic manage- ment of the acquiescent. [nhha.org]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female > male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.com]

FOUR: DEVELOPMENTAL DISORDERS AND THE ENVIRONMENT Feral Children - Susan Curtiss Developmental Disorders and Evolutionary Expectations: Mechanisms of Resilience - Barbara Finlay, Jeremy Yost and Desmond Cheung Dopamine Transporter Alterations in ADHD: Pathophysiology [amazon.de]

EPIDEMIOLOGY AND PATHOPHYSIOLOGY A elementary truce of the tumor type on the side of which surgery is planned is noted to optimize the anesthetic manage- ment of the acquiescent. [nhha.org]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

Prevention - Developmental dysphasia familial Not supplied. [checkorphan.org]

Understanding family medical history can help you make better decisions about preventative care and speech therapy. [speechbuddy.com]

How can dysphagia and aspiration be prevented? There are no known preventive strategies for idiopathic dysphagia and aspiration disorders. [clinicaladvisor.com]

The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. [rarediseases.org]

Is there anything I can do to prevent her from having the same language challenges as her older brother? Anonymous A: It’s completely understandable for you to be concerned about your daughter’s verbal development. [healthline.com]