Adulti con sindrome di Downdmmbm.dip.unina.it/wp-content/uploads/sites/17/2019/10/19-Angelo … ·...

Adulti con sindrome di DownAngelo Carfì

Fondazione Policlinico Universitario «A. Gemelli» IRCCS, Roma

Dove lavoro

Con chi

Scopo della presentazione

Programma

•Epidemiologia della DS

•Pratica clinica−Dati del nostro centro−Argomenti caldi−Uso di farmaci−Spunti di orientamento generale sull’approccio

agli adulti

•Campo aperto alla ricerca

Epidemiologia – Natalità DS stimata in U.S.

de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017 Apr;19(4):439-447. doi: 10.1038/gim.2016.127. Epub 2016 Sep 8. PubMed PMID: 27608174.

Birth control and family planning

introduced

Modern birth control pills

and IUDs

Fertility rate increased

surrounding WWII

Women begin to wait until

later years to have children

DS-related selective

termination

Epidemiologia – Prevalenza di DS in 9 statiU.S.

0

50000

100000

150000

200000

250000

1950 1960 1970 1980 1990 2000 2010

Historical development in number of people with DS in the U.S. by age group

0-4 5-9 10-14 15-19 20-24 25-29 30-39 40-49 50-59 >=60 yrs

de Graaf G, Buckley F, Dever J, Skotko BG. Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. Am J Med Genet A. 2017 Oct;173(10):2710-2719. doi: 10.1002/ajmg.a.38402.

0

50000

100000

150000

200000

250000

1950 1960 1970 1980 1990 2000 2010

Historical development in number of people with DS in the U.S. by age group

0-4 5-9 10-14 15-19 20-24 25-29 30-39 40-49 50-59 >=60 yrs

de Graaf G, Buckley F, Dever J, Skotko BG. Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. Am J Med Genet A. 2017 Oct;173(10):2710-2719. doi: 10.1002/ajmg.a.38402.

PED

???

Epidemiologia – Prevalenza di DS in 9 statiU.S.

Epidemiologia – Curva di sopravvivenza stimata in U.S.

Epidemiologia – dati U.S.

PED ???

Dati italiani – 38000 persone Down in Italia

Rosano A. Survival of Persons with Down Syndrome in Italy. Journal of Intellectual Disability - Diagnosis and Treatment, 2014, 2, 119-123 119

Programma



agli adulti


Total 18-39 years >40 years Female Male

n=421n=234

(55.6%)

n=187

(44.4%)

n=214

(51.1%)

n=207

(48.9%)

Demographics

Age 38.3 ± 12.8 28.6 ± 6.2 50.6 ± 7.1 39.9 ± 12.6 36.7 ± 12.9

Sex (female) 214 (50.8%) 106 (45.3%) 108 (57.8%)

Number of diseases 3.52 ± 1.79 3.32 ± 1.72 3.77 ± 1.85 3.58 ± 1.83 3.46 ± 1.75

0 7 (1.66%) 5 (2.14%) 2 (1.07%) 3 (1.4%) 4 (1.93%)

1 40 (9.5%) 28 (12.0%) 12 (6.42) 20 (9.35%) 20 (9.66%)

2 or more 374 (88.8%) 201 (85.9%) 173 (92.5%) 191 (89.3%) 183 (88.4%)

Number of drugs 2.09 ± 1.96 1.55 ± 1.72 2.77 ± 2.04 2.26 ± 1.89 1.92 ± 2.03

Neurotropic drugs 0.7 ± 1.05 0.39 ± 0.8 1.08 ± 1.20 0.79 ± 1.16 0.6 ± 0.92

Polypharmacy 44 (10.5%) 16 (6.84%) 28 (15%) 24 (11.2%) 20 (9.66%)

Disturbi della vista

Glasson EJ et al The triple challenges associated with age-related comorbidities in Down syndrome. J Intellect Disabil Res. 2014 Apr;58(4):393-8. PMID: 23510031.

Disturbi dell’udito

Picciotti PM, Carfì A, et al. Audiologic Assessment in Adults With Down Syndrome. Am JIntellect Dev Disabil. 2017 Jul;122(4):333-341.

Osteoporosi

19.6

4.3

15.2

3.9

6.2

2.4

4.9

1.3

17.0

2.3

12.3

3.3

any neck spine

M F M F M F

0

5

10

15

20

Pre

va

len

ce

(%

)

Group

NHANES

DS

• DS n = 398• NHANES n = 2705• vBMD stimata con

BMAD• Diagnosi secondo

linee guida WHO

Carfì A, et al. Unpublished data

Osteoporosi – Colonna lombare

0.10

0.15

0.20

0.25

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Lum

bar

sp

ine

BM

AD

Group: NHANES DSM

0.10

0.15

0.20

0.25

20−29 30−39 40−49 50−59 60−69 70−79

Age groupL

um

bar

sp

ine

BM

AD

Group: NHANES DSF

9.9

2.4

12.2

1.1

25.7

1.8

35.7

5.0 7.2 5.5

0

10

20

30

40

50

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Pre

va

len

ce

(%

)

10.1

2.5

19.0

1.8

10.9

2.6

10.8 4.2

8.1

18.6

0

10

20

30

40

50

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Pre

va

len

ce

(%

)


Osteoporosi – Collo femorale

0.1

0.2

0.3

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Fe

mo

ral ne

ck B

MA

D

Group: NHANES DSM

0.1

0.2

0.3

20−29 30−39 40−49 50−59 60−69 70−79

Age groupF

em

ora

l ne

ck B

MA

D

Group: NHANES DSF

2.5 1.8 4.1 0.5

5.6 0.5

21.4

1.0 6.2 7.3

0

10

20

30

40

50

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Pre

va

len

ce

(%

)

2.6 0.5 2.4 0.5

13.0

2.8 0.6 1.8 7.8

0

10

20

30

40

50

20−29 30−39 40−49 50−59 60−69 70−79

Age group

Pre

va

len

ce

(%

)


Programma



agli adulti


Cardiopatia congenita

Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet. 2002 Mar 23;359(9311):1019-25.PMID: 11937181.


• Pueschel & Werner 1994:

• 36 soggetti adulti

• 20 (55.5%) ecocardiogramma alterato

• 16 (44.4%) prolasso mitralico, 3 di questi con insufficienza aorticacontro il 5-10% della popolazione generale


• Prevalenza stimata del 40%

• Sesso femminile più prevalente

Baraona F et al. Hospitalizations and mortality in the United States for adults with Down syndromeand congenital heart disease. Am J Cardiol. 2013 Apr 1;111(7):1046-51. PMID: 23332593.

Baraona F et al. Hospitalizations and mortality in the United States for adults with Down syndromeand congenital heart disease. Am J Cardiol. 2013 Apr 1;111(7):1046-51. PMID: 23332593.


Disturbi dell’umore - Prevalenza

• Mantry et al. 2008: • studio su 134

soggetti con FU a 2 anni

• Episodiodepressivo nel5.2% del campione• 5.5 % tra 16-

44 anni

• 4.9% >45 anni

Disturbi dell’umore – Presentazione clinicaMyers and Pueschel (1995)

22 cases with major depression with a mean age of 28.5 years.

• loss of interest (95.4%).

• sleeping disorders and decreased appetite or weight loss (both in 81.8%),

• agitation (72%),

• anxiety (40.9%),

• fatigue (36.3%) and

• memory deficits (22.7%).

• Hallucinations occurred in 10 out of 22 (45.5%) cases with DS and major depression.

• attempted suicide was observed in 5 out of 22 cases (27.3%)

Cooper and Collacott (1994)

42 adults who had experienced at least one depressive episode.

• reduced interest and pleasure (91%),

• depressed affect (88%),

• psychomotor retardation (59%),

• tearfulness (57%),

• reduced energy (57%),

• loss of appetite (55%),

• sleep disturbance (46%),

• hypochondriasis (36%),

• aggression or tantrums (36%) and

• reduced speech (34%).

• Hallucinations occurred in three individuals (5%).

Disturbi dell’umore – depression/regression

• “Acute regression” – Mircher C et al. 2017

• “Down syndrome disintegrative disorder” – Worley G et al. 2015

• “New-Onset Autistic Regression”

• “Regression, Dementia, and Insomnia”

• “Catatonia” – Ghaziuddin N et al. 2015

• “Rapid clinical deterioration” – Jacobs J et al. 2016

Mircher C, et al. Acute Regression in Young People with Down Syndrome. Brain Sci. 2017 May 27;7(6). PMID: 28555009


• Significant and precipitous loss of activities of daily living and baseline skills within 6 months

• Perceived decline in cognition

• Unexplained decompensation in behavioral functioning and mood

• Significant loss of speech

• Ages 10–30 years and usually post-pubertal at the time of onset

• Prior to onset, no history of autism spectrum disorder, infantile spasms, seizure disorder, or significant psychopathology

Jacobs J et al. Rapid clinical deterioration in an individual with Down syndrome. Am J Med Genet A. 2016 Jul;170(7):1899-902. PMID: 27149638.


Mircher C, et al. Acute Regression in Young People with Down Syndrome. Brain Sci. 2017 May 27;7(6). PMID: 28555009


Ghaziuddin N, Nassiri A, Miles JH. Catatonia in down syndrome; a treatablecause of regression. Neuropsychiatr Dis Treat. 2015;2(11):941–942.

EpilessiaBimodal distribution of seizure problems in patients with Down syndrome.

• In the first year of life, infantile spasms and the entity of tonic-clonicseizures with myoclonus accounted for 40% of those with seizures.

• Few seizures developed from the age of 1 to 19 years, whereas

• between 20 and 30 years of age a further 40% of the patients began having seizures.

Pueschel SM, Louis S, McKnight P. Seizure disorders in Down syndrome. Arch Neurol. 1991 Mar;48(3):318-20. PubMed PMID: 1825777.

Epilessia - caratteristiche

•Myoclonus and seizures are very common in DS dementia

• described as the presenting symptom in some cases, especially in those with severe ID

•Also predictive of rate of decline

• so strongly associated with AD in older individuals with DS that the onset of seizures in older age should trigger an assessment for dementia

• Seizures are commonly myoclonic or tonic-clonic types• earlier picture characterized by myoclonic jerks on awakening• progression to generalized tonic-clonic seizures.

Zis P, Strydom A. Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome. Free Radic Biol Med. 2018 Jan;114:3-9. doi: 10.1016/j

Epilessia

Zis P, Strydom A. Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome. Free Radic Biol Med. 2018 Jan;114:3-9. doi: 10.1016/j

Programma



agli adulti


Composizione corporea – Sarcopenia

SINDROME DI DOWN (n = 45) NANHES (n = 1192)

M

n=29

(64,4%)

F

n=16

(35,6%)

TOT

n = 45

M

n=625

(52,4%)

F

n=567

(47,6%)

TOT

n=1192

Age 37 ± 14 35 ± 13 35 ± 13 41 ± 14 40 ± 14 40 ± 14

Aree di interesse (oltre alla demenza)

•Disturbi comportamentali –personalizzazione delle terapie

•“Grandi assenti”• Ipertensione – malattia cardiovascolare (?)•Neoplasie

•Metabolismo

•Disturbi gastrointestinali

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