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Speech disorders 3

Speech disorders 3. By: Majid Mojarrad. Angelman syndrome. incidence of 1/10,000 to 1/30,000 Deletion of maternal 15q11-13 Maternal Uniparental disomy of 15q11-13 Severe mental retardation Severe speech impairment Delayed development by 6–12 months of age Receptive language skills

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Speech disorders 3

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  1. Speech disorders 3 By: Majid Mojarrad

  2. Angelman syndrome • incidence of 1/10,000 to 1/30,000 • Deletion of maternal 15q11-13 • Maternal Uniparentaldisomy of 15q11-13 • Severe mental retardation • Severe speech impairment • Delayed development by 6–12 months of age • Receptive language skills • Nonverbal communication

  3. balance disorder • unstable and jerky movements • gait ataxia • tremulous movements of the limbs

  4. Happy phenotype • Happy • Excited • Active • Short attention span • “Happy Puppet” syndrome

  5. Consistent cardinal features • Normal newborn phenotype • Developmental delay • Starting around 6 months of age • Eventually classified as severe developmental delay and/or mental retardation • Profound speech impairment • Absent or minimal use of words • Receptive and nonverbal communication skills • Movement or balance disorder • Abnormal ataxic gait • Puppet-like jerky movements of limbs • Hand flapping movement

  6. Other signs • Seizure • Abnormal EEG • Strabismus • Wide mouth • Widely spaced teeth • Frequent drooling • Swallowing disorder • Feeding problems during infancy • Hypopigmented skin • Light hair and eye color,

  7. Prader-Willi syndrome • Deletion of normally active paternally inherited genes at chromosome 15q11-q13 • neurogenetic disorder characterized by: • Hypotonia • feeding difficulties in infancy • Followed by • Hyperphagia • Hypogonadism • mental retardation • Short stature • It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis • incidence of Prader-Willi syndrome is approximately 1/10,000 to 1/15,000 individuals

  8. CLINICAL FEATURES • Neonatal presentation • Central hypotonia in infancy • Poor feeding/sucking • Poor weight gain (failure to thrive) • Genital hypoplasia/hypogonadism • Diminished deep tendon reflexes • Abnormal squeaky weak cry • History of fetal inactivity (in uterohypotonia)

  9. Developmental delay • Mild dysmorphic features • Almond-shaped eyes • Dolichocephaly • Narrow bifrontal diameter • Narrow nasal bridge • Small mandible • Small mouth • High-arched palate • Down-turned lips • Thick viscous saliva • Speech articulation defects

  10. Del(22q11.2) Syndromes • relatively common genetic disorder • 1 in 4000 live births • Variable phenotype • velocardiofacial syndrome • DiGeorge syndrome • Takao syndrome • Cayler craniofacial syndrome

  11. congenital heart defects • palate abnormalities • aplasia or hypoplasia of the thymus • small or absent parathyroid glands • distinct facial features • immune problems • learning disabilities • other abnormalities • speech abnormalities • congnitive difficulties

  12. failure to thrive • feeding problems due to their palate abnormalities • Gastroesophageal reflux • vomiting problems • Generalized growth problems • Short stature • specific learning disabilities • developmental delay

  13. higher rates of: • bipolar affective disorder • manic-depressive illness • Schizoaffective disorder • Depression • Mild mental retardation • attention deficit hyperactivity disorder

  14. Fragile X syndrome • Martin-Bell syndrome • Most common form of inherited mental retardation • about one in 4,000 to one in 6,250 males • Three nucleotide repeat expansion (CGG) • developmental delay • variable levels of mental retardation • behavioral and emotional difficulties

  15. Typical facial features • Long face • Prominent forehead • Prominent/long ears • Prominent jaw

  16. CNS involvement • Delayed developmental milestones • Mild to severe mental retardation • Difficulty with: • abstract thinking • Sequential processing • Mathematics • short-term memory • visual motor coordination • Seizures

  17. Connective tissue dysplasia • Hyperextensible finger joints • Double-jointed thumbs • Flat feet • High-arched palate • Mitral valve prolapse (55%, diagnosed by echocardiography) • Dilatation of the ascending aorta • Inguinal hernia • Soft skin

  18. Behavior abnormalities • Poor eye contact (excessive shyness) • Attention-deficit/hyperactivity disorder • Hyperactivity • Speech disorder • Echolalia • Autism • Autistic-like features • Schizotypal personality disorder • Anxiety disorder

  19. Goldenhar syndrome • congenital condition associated with abnormalities of the head and the bones of the spinal column • one of every 3,000 to 5,000 live births • Males are affected more frequently than females • abnormalities are typically limited to the face and vertebrae

  20. Clinical features • Can be bilateral or unilateral • Hemifacialmicrosomia • Ocular manifestations • Unilateral microphthalmia • Strabismus • Optic nerve hypoplasia • Macular hypoplasia • Microphthalmia • Anophthalmia

  21. Ear anomalies • Microtia • Preauricular tags and/or pits • Middle ear anomaly • Inner ear defects • Variable deafness • Vertebral defects • Hemivertebrae • Hypoplasia of vertebrae, usually cervical • Abnormal ribs • scoliosis

  22. Craniofacial features • Cranial nerve palsy • Cleft lip/palate • Malfunction of soft palate • Decreased parotid secretion • Anomalies in function or structure of the tongue • Low scalp hair line

  23. Lowe syndrome • Rare X-linked recessive disorder (Xq26.1) • Congenital cataracts • mental retardation • Generalized aminoaciduria • New mutations in 31.6% of affected males • Germlinemosaicism in 4.5%

  24. Eye abnormalities • Congenital cataracts (the hallmark of the disease) • Developed prenatally • Always present prior to birth • Congenital glaucoma • Microphthalmos • Nystagmus • Decreased visual acuity (blindness)

  25. CNS (prominently involved organ) and behavioral abnormalities • Neonatal/infantile hypotonia • Delay in motor milestones • Cognitive impairment • Areflexia by one year of age • Mental retardation (common but not cardinal feature) • Seizures • Neuropathologic and neuroimaging abnormalities • Self injury

  26. Musculoskeletal abnormalities • Secondary consequences of hypotonia, renal tubular acidosis, and/or hypophosphatemia • Short stature • Joint hypermobility • Dislocated hips • Scoliosis • Kyphosis • Fractures

  27. STICKLER SYNDROME • Progressive myopia, retinal detachment and blindness, and premature degenerative changes in various joints • autosomal dominant with wide variation in expression • locus and allelic heterogeneity • COL2A1 gene mutations: Chr12q13.11-q13.2

  28. Clinical features • Hearing impairment • Normal intelligence • Facial bone hypoplasia • Flat midface • Depressed nasal bridge • Maxillary hypoplasia • Mandibularhypoplasia • High arched/cleft palate • Abnormal teeth • Joint hyperextensibility • Enlarged joints

  29. Clinical features • Long fingers • Scoliosis • Hip dislocation • Relative muscle hypoplasia • Premature osteoarthritis

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