congnitive and langauage problems

[christy1977]

[edit] Cognitive and language problems

[edit] Cognitive deficits

Children with 22q11.2 have a specific profile in neuropsychological tests. They usually have a low IQ (50-80) but with better verbal than procedural functions. Especially big problems are usually within arithmetic and executive skills. Familial transmission of the disease seems to result in worse cognitive impairments than the de novo cases. It has been speculated that the observed cognitive problems arise from visuo-spatial problems.

Noteworthy is that these patients are a specifically high-risk group for developing schizophrenia. 30% have at least one incident of psychosis and about a quarter develop actual schizophrenia.^[7]

[edit] Speech and Language

Current research demonstrates there is a unique profile of speech and language impairments associated with 22q11.2 deletion syndrome. Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores. Common problems include hypernasality, language delays, and speech sound errors.^[8][9][10]

Hypernasality occurs when air escapes through the nose during the production of oral speech sounds resulting in reduced intelligibility. This is a common characteristic in the speech and language profile because 69% of children have palatal abnormalities. If the structure of the soft palate velum is such that it does not stop the flow of air from going up to the nasal cavity, it will cause hypernasal speech. This phenomenon is referred as velopharyngeal inadequacy VPI. Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output. The treatment options available for VPI include prosthesis and surgery. ^{[8] [11][12][9][13]}

Difficulties acquiring vocabulary and formulating spoken language (expressive language deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion. Vocabulary acquisition is often severely delayed for preschool age children. In some recent studies, children had a severely limited vocabulary or were still nonverbal at 2-3 years of age. School age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences. Receptive language, which is the ability to comprehend, retain, or process spoken language, can also be impaired although not usually with the same severity as expressive language impairments. ^{[14][12][9][13]}

Articulation errors are commonly present in children with 22q11.2 deletion syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility. The phonemic inventory typically produced consists of sounds made in the front or back of the vocal tract such as: /p/, /w/, /j/, /m/, /n/, and glottal stops. Mid vocal tract sounds are completely absent. Compensatory articulation errors made by this population of children include: glottal stops, nasal substitutions, pharyngeal fricatives, linguapalatal sibilants, reduced pressure on consonant sounds, or a combination of these symptoms. Of these errors, glottal stops have the highest frequency of occurrence. It is reasoned that a limited phonemic inventory and the use of compensatory articulation strategies is present due to the structural abnormalities of the palate. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures. ^[8][12]

[edit] See also

• Asymmetric crying facies

[edit] References

1. ^ PMID 14736631
2. ^ Debbane M, Glaser B, David MK, Feinstein C, Eliez S (2006) Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Schizophr Res 2006, 84(2- 3):187-193. PMID 16545541
3. ^ Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003) The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 2003, 160(9):1580-1586. PMID 12944331
4. ^ Horowitz A, Shifman S, Rivlin N, Pisante A, Darvasi A (2005) A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res 2005, 73(2-3):263-267. PMID 15653270
5. ^ Markert ML, Devlin BH, Alexieff MJ, et al (2007). "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants". Blood 109 (10): 4539-47. doi:10.1182/blood-2006-10-048652. PMID 17284531. 
6. ^ PMID 14736631
7. ^ Zinkstok, J. & Amelsvoort, T.: "Neuropsychological Profile and Neuroimaging in Patients with 22.11 Deletion Syndrome, A Review." In Child Neuropsychology, 11:21-37. 2005.
8. ^ ^{a b c} D’Antonio, Linda L.; Scherer, Nancy; Miller, Laura L.; Kalbfleisch, John H.; Bartley, James A. 2000. “Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS and Children with Phenotyhpic Overlap without VFCS.” Cleft PalateCraniofacial Journal. September, 39:5, 455-67.
9. ^ ^{a b c} Scherer, Nancy J; D’Antonio, Linda L.; Kalbfleisch, John H. 1999. “Early Speech and Language Development in Children With Velocardiofacial Syndrome.” American Journal of Medical Genetics (Neuropsychiatric Genetics). 88: 714-23.
10. ^ Scherer, Nancy J.; D’Antonio, Linda L.; Rodgers, Jennifer R. 2001. “Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome.” Genetics in Medicine hi . January/February, 3:1, 72-8.
11. ^ Eliez, D.; Feinstein, C.; Palacio-Espasa, F; Spira, A.;Lacriox, M.;Pont, C.;Luthi, F.; Robert-Tissot, C.; Cramer, B.; Schorderet, D. F.; Antonarakis, S. E. 2000. “Young Children with Velo-Cardio-Facial syndrome (Catch-22). Psychological and language phenotypes.” European Child & Adolescent Psychiatry. 9: 109-1 14.
12. ^ ^{a b c} Robin, Nathaniel H.; Shprintzen, Robert J.;2005. “Defining the Clinical Spectrum Spectrum of Deletion 22q11.2”. The Journal of Pediatrics. 147:90-96
13. ^ ^{a b} Solot, Cynthia B. and Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter and Larossa, Don; Driscoll, Deborah A. 2000. “Communication Disorders in the 22Q11 .2 Microdeletion Syndrome.” Journal of Communication disorders. 33: 187-204.
14. ^ Persson, Christina; Niklasson, Lena; Oskarsdottir, Solveig; Johansson, Susanne; Jonsson, Radi; Soderpalm, Ewa. 2006. “Language skills in 5-8-year-old children with 22q1 1 deletion syndrome.” International Journal of Language & Communication Disorders. 41:3, 3 13-33.

This article incorporates public domain text from The U.S. National Library of Medicine

 | Syndromes