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Overview of Speech Disorders Related to Genetic Syndromes

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This article explores various speech disorders linked to genetic syndromes such as Angelman syndrome, Prader-Willi syndrome, and Fragile X syndrome. It highlights their clinical features, including severe speech impairment, developmental delays, and characteristic behavioral traits. Conditions like Goldenhar syndrome and 22q11.2 deletion syndromes are also discussed, with emphasis on their incidence rates, phenotypic variations, and associated complications like feeding difficulties and mental retardation. Understanding these syndromes helps in the early identification and management of affected individuals.

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Overview of Speech Disorders Related to Genetic Syndromes

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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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