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 Uniparental disomy 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,

8. 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

9. 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 utero hypotonia)

10. Mild dysmorphic features
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

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

13. 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

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

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

17. 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

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

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

20. 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

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

24. 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

25. Clinical features Can be bilateral or unilateral Hemifacial microsomia
Ocular manifestations
Unilateral microphthalmia
Strabismus
Optic nerve hypoplasia
Macular hypoplasia
Microphthalmia
Anophthalmia

26. Ear anomalies Vertebral defects 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

27. 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

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

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

31. 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

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

35. 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

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

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