Presentation
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]
Ears
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Hearing Problem
Unspecified hearing loss, unspecified ear Complete deafness ; Congenital hearing disorder; Deafness ; Hearing disorder, congenital; Hearing loss; Hearing loss, high frequency; Hearing loss, severe; Hearing problem; Severe hearing loss; Speech and language [icd10data.com]
Hearing problems occur often in newborns and in a higher number of babies who are in a neonatal intensive care unit. Universal newborn hearing screening programs should help in determining hearing acuity. [healthofchildren.com]
Neurologic
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Cognitive Impairment
Eventually, cognitive impairment and dementia may result. About half of cases have a stroke-like episode. The age of onset is 20 to 50 years old. [rarediseases.org]
The diagnosis is made only after excluding sensory impairment of vision or hearing, perceptual impairment (agnosia), cognitive impairment (memory), impaired movement (apraxia) or thought disturbance, as in dementia or schizophrenia. [aacknowledge.org.uk]
All medications should be monitored, since high doses of some drugs used for Parkinson’s can cause cognitive impairment such as hallucinations or confusion. [caregiver.org]
Though someone might be able to find a specific cognitive impairment which also affected these aspects of language, no such hypothesis has yet been presented. [projects.chass.utoronto.ca]
impairment Limb girdle muscular dystrophy 1 per 15,000 population Proximal pelvic shoulder girdle weakness Calf hypertrophy Scapular winging Different subtypes may have variable extent of cardiomyopathy or cardiac arrhythmias, respiratory muscle weakness [clevelandclinicmeded.com]
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Clumsiness
Typically, the child in question may be seen to be clumsy and poorly co-ordinated; and there is a risk that (s)he could be misperceived as deliberately awkward or provocative, as a result of inadvertently pushing other children for example. [mugsy.org]
Their clumsiness may link with a learning disability or attention-deficit hyperactivity disorder. [healthofchildren.com]
Some children have other challenges as well, including attention problems, clumsiness, and academic problems when they get to school. There is a range of severity. Some children are slow to talk but appear to catch up by 4-5 years of age. [childneurologyfoundation.org]
[…] specific language impairment in adults for the purpose of pedigree analysis. ( 1405540 ) Tomblin JB...Records NL 1992 926 Grammatical morphology and speech perception in children with specific language impairment. ( 1447919 ) Leonard LB...Allen GD 1992 927 Clumsiness [malacards.org]
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Perseveration
Atypical behaviors include those considered to be uncommon, such as perseveration on specific activities, adherence to strict daily rituals, aloofness, and echolalia (repeating words, phrases, … View Full Text Log in using your username and password Log [pedsinreview.aappublications.org]
Look out for difficulty in finding the right word and perseveration. This is inappropriate repetition of the same word or phrase. Can the patient talk spontaneously on a familiar topic? "Tell me about your family." [aacknowledge.org.uk]
Those who do speak may have echolalia, perseveration, pronoun reversal, extreme literalness, monotony of tones, failure to use correct cadence and intonation, failure to develop semantics (word use), failure to develop reciprocity in dialogue, and failure [hawaii.edu]
In autism, comprehension and pragmatics are always affected, and findings include aberrant prosody, immediate or late echolalia and perseveration (inappropriate repetition of a utterance). [jped.com.br]
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Focal Seizure
Centrotemporal spikes, more common during sleep, are the electrographic hallmark of the syndrome and indicate focal seizure origin from perirolandic cortex. [ncbi.nlm.nih.gov]
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Abnormal Coordination
On the other hand, chronic cardiorespiratory, metabolic and neurologic diseases may result in dysphagia and aspiration through abnormal coordination between breathing and swallowing, alteration of pulmonary mechanics and ineffective cough clearance of [clinicaladvisor.com]
Workup
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]
Treatment
The seizures were easily controlled by antiepileptic treatment in all patients except one. [ncbi.nlm.nih.gov]
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]
Treatment - Developmental dysphasia familial Not supplied. Resources - Developmental dysphasia familial Not supplied. [checkorphan.org]
Current Management in Child Neurology, Fourth Edition aims to provide busy practitioners with standard-of-care reviews on the evaluation and treatment of the most common complaints or conditions that relate to nervous system disorders and dysfunction. [books.google.com]
Treatment for expressive language disorder Treatment options depend on the severity of the impairment. [betterhealth.vic.gov.au]
Prognosis
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]
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]
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]
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]
Etiology
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]
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]
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]
Epidemiology
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]
Pathophysiology
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.it]
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
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]