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]

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]

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]

• Epilepsy

  CONCLUSION: We have described a novel familial pattern of epilepsy and developmental dysphasia which is not genetically linked to epilepsy or speech disorder loci, as documented by a candidate-gene linkage approach. [ncbi.nlm.nih.gov]

  Testoni and Daniela Passarelli and Carlo Nobile}, journal={Epilepsy Research}, year={2008}, volume={80}, pages={9-17} } Roberto Michelucci, Eva Scudellaro, +2 authors Carlo Nobile Published in Epilepsy Research 2008 DOI: 10.1016/j.eplepsyres.2008.03.014 [semanticscholar.org]

  Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci. Epilepsy Res. 80, 9–17 (2008). 8. Roll, P. et al. [nature.com]

  The section offers management reviews in headache, seizures, epilepsy, neurobehavioral disorders, school readiness, developmental delay and a range of other conditions. [books.google.com]

• Developmental Delay

  Common problems Although there are several areas of developmental areas, this article is restricted to global delay, delay in speech and language, motor and fine motor delays, and personal and social developmental delays. [healthofchildren.com]

  The section offers management reviews in headache, seizures, epilepsy, neurobehavioral disorders, school readiness, developmental delay and a range of other conditions. [books.google.com]

  Challenging Case: Developmental Delays and Regressions Abstract Shelly is a 20-month-old white female whose parents thought she was in excellent general health when she came to her pediatrician for a health supervision visit. [journals.lww.com]

  […] receptive language disorder; Expressive/receptive language disorder; Language disorder, receptive; Mild receptive language delay; Mixed receptive expressive language disorder; Moderate receptive language delay; Receptive developmental language delay; [icd10data.com]

  Prevalence is markedly increased in patients with neurologic compromise and developmental delay. Response to speech therapy in these patients is variable and dependent, at least in part, on the underlying neurologic dysfunction. [clinicaladvisor.com]

• Cerebral Palsy

  cerebral palsy, hearing loss Birth trauma Cerebral palsy Intracranial hemorrhage Mental retardation, hearing loss, cerebral palsy Kernicterus Mental retardation, hearing loss, cerebral palsy Feeding difficulties, excessive drooling Cerebral palsy Past [aafp.org]

  When a child has primarily motor delays, conditions such as cerebral palsy, ataxia, spina bifida, spinal muscular atrophy (withering) and myopathy may be present. If there is no motor delay, a child does not have cerebral palsy. [healthofchildren.com]

  Language disability in childhood dysphasia is not secondary to other clinical conditions such as deafness, autism, the cerebral palsy, Emotional alterations, Mental retardation Or environmental deprivation. [lifepersona.com]

  If there is a defect it is a subtle one: when we see severe oral apraxia, as in persons with cerebral palsy, this pattern of feature-blindness does not occur. [projects.chass.utoronto.ca]

  The differential diagnoses for these language disorders include: deafness or hearing loss, mental retardation, autism spectrum disorders, other psychiatric disorders, organically caused communication disorder (cleft palate, apraxia, cerebral palsy, or [hawaii.edu]

• Fever

  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 [checkorphan.org]

  Brain cavernous angioma Brain neoplasms Brain stem neoplasms Branchial arch defects Branchial arch syndrome X linked Branchio-oculo-facial syndrome Hing type Branchio-oculo-facial syndrome Branchio-oto-renal syndrome (BOR syndrome) Brazilian hemorrhagic fever [ipfs.io]

  […] platelet disorders Blood vessel disorder Bloom syndrome Blount's disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus Bo [ edit ] Bod–Boo [ edit ] BOD syndrome Boder syndrome Body dysmorphic disorder Boil Bolivian hemorrhagic fever [en.wikipedia.org]

  Malignant Hyperthermia Malignant hyperthermia is a severe reaction to anesthetic agents and depolarizing muscle-blocking agents that manifests as muscle rigidity, fever, muscle necrosis, myoglobinuria, metabolic acidosis, kidney failure, and cardiac arrhythmias [clevelandclinicmeded.com]

  The course is chronic and progressive with episodic decline following fever, head trauma, or periods of fright. [rarediseases.org]

• Unconsciousness

  Patients may report a "dreamy state," transitional between waking and unconsciousness. Psychic seizures can alter language function, perception or memory. [ncbi.nlm.nih.gov]

• Dysphagia

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

  […] behaviors for developmental level Failing to master self-feeding skills expected for developmental levels Failing to use developmentally appropriate feeding devices and utensils Experiencing less than optimal growth (Arvedson, 2008) Swallowing disorders (dysphagia [asha.org]

  Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res. 2004 Feb 15;10(4):1250-4. [gistsupport.org]

  Due to the similarity in pronunciation, dysphasia is often confused with dysphagia, which is a swallowing disorder. In order to differentiate and abate confusion, the medical world often calls dysphasia by the name “aphasia”. [ayushveda.com]

• Macrocephaly

  Most parents with a single mutation had macrocephaly, indicating dominant inheritance. [rarediseases.org]

  Bardet-Biedl syndrome Mental retardation View/Print Table TABLE 4 Physical Examination Findings in the Evaluation of Children With Speech Delay Physical findings Possible etiology Short stature, obesity, hypogonadism Prader-Willi syndrome Microcephaly, macrocephaly [aafp.org]

• Hearing Impairment

  Other issues, such as autism and hearing impairment, accompany some language disorders. These issues can worsen your child’s symptoms. [healthline.com]

  In this condition, children are unable to understand language as meaningful, even when hearing is entirely normal. They sometimes appear to be hearing impaired because they do not respond to calling their name or to verbal questions or commands. [childneurologyfoundation.org]

  Acquired epileptiform aphasia is characterized by deterioration of spoken language associated with seizures or abnormal epileptiform electroencephalographic activities, being often mistaken for autistic syndrome or hearing impairment. [jped.com.br]

• Dyslexia

  With regard to developmental dyslexias, the most common ones are phonological dyslexia, surface dyslexia, and semantic dyslexia. [jped.com.br]

  Comparing the cognitive profiles of dyslexia and specific language impairment and their roles in learning. ( 28486125 ) Alloway T.P....Hijar D. 2017 30 A Preliminary Comparison of Reading Subtypes in a Clinical Sample of Children With Specific Language [malacards.org]

  Dyslexia Dyslexia is a type of learning disorder that is most often characterized by a difficulty in reading. Dyslexia is classified as the most common learning disorder or disability in children of school age. [universalclass.com]

  There are several susceptibility genes described in the heterogeneous group of dyslexia with regular segregation. The resulting phenotypes do not represent this in any case. This is totally fascinating. [scienceblogs.com]

  C. (1998), “Functional connectivity of the angular gyrus in normal reading and dyslexia”, Proc. Natl. Acad. Sci. U.S.A 95: 8939-8944. [ludus-vitalis.org]

• Low Self-Esteem

  Counseling can also help your child to adjust socially and avoid low self-esteem. Seeking treatment early is important for minimizing the psychological challenges that your child might experience as a result of the disorder. [healthline.com]

  Frustration over the academic challenges may lead to feelings of low self-esteem, depression, and acting-out or oppositional behaviors (e.g., “I hate school!”). [childneurologyfoundation.org]

• Antisocial Personality Disorder

  Affected young adults are also at risk for antisocial personality disorder. The severity of the language deficit may predict to some extent the later presence of social anxiety disorders, but this is not definitive. [childneurologyfoundation.org]

• Dysphasia

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

  Abstract The genetic basis of Developmental Dysphasia is discussed with precise neuropsychological descriptions of 11 cases in six families. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Familial developmental dysphasia Disease definition Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical [orpha.net]

  Summary : Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. [familydiagnosis.com]

• Seizure

  The seizures had their onset between 2 and 23 years and were reported as epileptic falls (4) associated or not with myoclonic features, absences (3), tonic-clonic (1) and complex partial seizures (1). [ncbi.nlm.nih.gov]

  The section offers management reviews in headache, seizures, epilepsy, neurobehavioral disorders, school readiness, developmental delay and a range of other conditions. [books.google.com]

  Cognitive abilities are relatively spared but seizures may occur in this classical form. Recessive MLC1 mutations are observed in 80% of patients with MLC. [rarediseases.org]

  Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 51, 676–685 (2010). 2. Tassinari, C.A. et al. [nature.com]

• Meningism

  The final section, The Hospitalized Child, features chapters addressing current therapy issues for trauma, meningitis and encephalitis, injury to the preterm and term brains, status epilepticus and a host of other conditions associated with hospital care [books.google.com]

  […] after extensive investigation. 9 Known causes of mental retardation include genetic defects, intrauterine infection, placental insufficiency, maternal medication, trauma to the central nervous system, hypoxia, kernicterus, hypothyroidism, poisoning, meningitis [aafp.org]

  Ba Bab–Bam Baber's syndrome Babesiosis Bacillus cereus infection Bacterial endocarditis Bacterial food poisoning Bacterial gastroenteritis Bacterial meningitis Bacterial pneumonia Bacterial vaginosis BAER Bagatelle–Cassidy syndrome Bahemuka–Brown syndrome [ipfs.io]

  Bacterial meningitis[?] Bacterial pneumonia[?] BAER[?] Bagatelle Cassidy syndrome[?] Bahemuka Brown syndrome[?] Baker Vinters syndrome[?] Baker-Winegard syndrome[?] Balantidiasis[?] Ballard syndrome[?] Ballistophobia[?] Balo disease[?] [encyclopedia.kids.net.au]

  Ba [ edit ] Bab–Bam [ edit ] Baber's syndrome Babesiosis Bacillus cereus infection Bacterial endocarditis Bacterial food poisoning Bacterial gastroenteritis Bacterial meningitis Bacterial pneumonia Bacterial vaginosis BAER Bagatelle–Cassidy syndrome Bahemuka–Brown [en.wikipedia.org]

• Headache

  The section offers management reviews in headache, seizures, epilepsy, neurobehavioral disorders, school readiness, developmental delay and a range of other conditions. [books.google.com]

  What happened next was less wonderful: a splitting headache, what we now call a migraine. [phenomena.nationalgeographic.com]

  Most affected persons have a ready set of excuses for not recognizing someone in the street, like being deep in thought, needing new glasses, being tired or distracted, or suffering from a bad headache. [scienceblogs.com]

  […] scapular winging, and later distal leg muscle weakness Hearing loss Retinal telangiectasias Mitochondrial myopathies 1 per 8000 population Exercise intolerance Proximal girdle muscle weakness Extraocular muscle weakness Peripheral neuropathy Migraine headaches [clevelandclinicmeded.com]

  University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology Robert Stanley Rust, Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache [emedicine.medscape.com]

• 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]

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

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

Typically, treatment involves one-on-one therapy with a speech language pathologist (SLP). [7] In children with DVD/CAS, consistency is a key element in treatment. [en.wikipedia.org]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

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]

Illustrating this point, Rommel et al investigated the etiology of dysphagia in 700 children. The mean age was 25 months. Nearly half of these patients had a multifactorial etiology for their dysfunctional feeding pattern. [clinicaladvisor.com]

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]

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]

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]