2. Introduction
I am a young clinical psychologist working in the area of early
childhood intervention.
Through assessments, evaluation, and therapy, I work to
improve the functioning of children with severe developmental
disabilities and delays.
3. My little patients suffer from various neurological, genetic and
metabolic diseases. Helping them involves knowledge of many
different theories of development1 and neurobiological
mechanisms of individual impairments.
1. Karmiloff, Annette. "Development itself is key to understanding developmental disorders". Page 1. Published October 1,
1998.
4. My work is really rewarding, however it is a great challange!
Understanding the Brain course allowed me to better analize the
events and phenomena around me, especially in my workplace.
Let me show you just a little example of
it, concerning Down syndrome –
the most common chromosome
abnormality in humans.2
2. Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health
and disease in adults with Down syndrome.". Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 133 (3): 290–4.
5. Down syndrome
The main genetic defect of DS (95%) is the presence
of an extra human chromosome 21 (trisomy 21). The
others 5% remaining occur due to mosaicism or
translocation.3
It is one of the most prevalent genetic causes of
mental retardation, occurring in 1 in each 700 live
births in all races and ethnic groups. 4
3. Sherman S. L., Allen E. G., Bean L. H. & Freeman S. B. (2007) Epidemiology of Down syndrome. Mental Retardation and Developmental
Disabilities Research Reviews 13, 221–227.
4. Sommer C. A. & Henrique-Silva F. (2008) Trisomy 21 and Down syndrome: a short review. Brazilian Journal of Biology 68, 447–452.
6. The phenotype of DS, in addition to the intellectual disability,
includes muscle hypotonia in every affected individual and specific
facial features.5
Certain clinical conditions occur more commonly in DS persons that
in the general population. Subjects with DS are more prone to have
congenital heart diseases (40–45%), obstructive sleep apnoea,
hearing loss, atlantoaxial instability, periodontal disease, visual
impairment, seizures, immune and endo- crine system defects,
gastrointestinal malformation, and increased risk of leukaemia, but
a significantly decreased risk of certain solid tumours.6
5. Antonarakis S. E., Lyle R., Dermitzakis E. T., Reymond A. & Deutsch S. (2004) Chromosome 21 and down syndrome: from
genomics to pathophysiology. Nature Reviews. Genetics 5, 725–738.
6. Menezes A. H. (2008) Specific entities affecting the craniocervi- cal region: osteogenesis imperfecta and related
osteochondro- dysplasias: medical and surgical management of basilar impression. Childs Nervous System 24, 1169–1172.
7. 1. Parts of the nervous system that are active in my
example
Smaller overal brain volume, cerebral grey and white matter
(frontal lobe), cerebellar, brainsteam and hippocampus7,8
Larger subcortical grey matter volume and relative
preservation of parietal lobe grey and temporal lobe white
matter in children and young adults with DS.8
Increased corpus callosum area. 9
7. Weis S., Weber G., Neuhold A. & Rett A. (1991) Down syndrome: MR quantification of brain structures and comparison with normal
control subjects. AJNR. American Journal of Neuroradiology 12, 1207–1211.
8. Pinter J. D., Eliez S., Schmitt J. E., Capone G. T. & Reiss A. L. (2001b) Neuroanatomy of Down’s syndrome: a high-resolution MRI study.
American Journal of Psychiatry 158, 1659– 1665.
9. Tan G. M., Arnone D., McIntosh A. M. & Ebmeier K. P. (2009) Meta-analysis of magnetic resonance imaging studies in chro- mosome
22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophrenia Research 115, 173–181.
8. 2. functions of the nervous system that are apparent
and/or impaired in my example
The people with DS exhibit global development delay with
disproportionately impaired speech, language and deficits in
learning and memory.10
Furthermore, behaviour problems, attention deficit ⁄
hyperactivity disorder are also elevated in DS.11
Signs of early onset Alzheimer’s disease are present in all DS
subjects older than 40 years. 12
10. Aylward E. H., Li Q., Honeycutt N. A., Warren A. C., Pulsifer M. B., Barta P. E., Chan M. D., Smith P. D., Jerram M. & Pearlson G. D. (1999a)
MRI volumes of the hippocampus and amygdala in adults with Down’s syndrome with and without dementia. American Journal of
Psychiatry 156, 564–568.
11. Dykens E. M. (2007) Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Devel- opmental
Disabilities Research Reviews 13, 272–278.
12. Beacher F., Daly E., Simmons A., Prasher V., Morris R., Robinson C., Lovestone S., Murphy K. & Murphy D. G. (2009) Alzheimer’s disease
and Down’s syndrome: an in vivo MRI study. Psychological Medicine 39, 675–684.
9. 3. the ways in which this course has allowed me to better
analize the events and phenomena around me.
As a young and unexperienced psychologist with huge
motivation but lack of humility, I wanted to know one, right
answer for the question: what causes certain intelectual
disabilities? The course helped me to understand that there is
no one simple answer for the questions conected with the CNS
impairments. It showed me the complexity of inteligence – one
of the emergence properties of the entire cerebral cortex.
The course refreshed my academic knowledge about the
intelectual disability, reminding me of the fact that it is very
common problem (5% of population) and that one, general
inteligence does not exist and finaly, that there is no one factor
leading to it.
10. The course also pointed very important aspect of intelectual
disability - there are problems with some pieces of cognition, but
other pieces can be just fine and maybe even flourish, e.g. people
with Down syndrome do fairy well with social skills or hand eye
coordination. It is extremely important for the clinicist to remember
about strong sides of the patients.
In more general sense, dr Mason’s lectures beautifully emphasized
the humanistic aspect of neurobiology and life with severe CNS
disease. We can not predict how the disease is going to affect any
given individual. That is completely personal reaction.
11. As dr Mason says: „People make their own meaning out of
disease or even death” ( week 10, lecture 18). This personal
perspective is extremely valuable for every person working in
the healtcare area. It helps to concentrate on planning
individual diagnosis and therapy program.
Thank you!
I appreciate your time spent on reading and commenting.
