Down Syndrome: Updates on care and counseling during early childhood. Objectives. Describe the cause of Down Syndrome
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1 Down Syndrome: Updates on care and counseling during early childhood Carlos A. Bacino, M.D. Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital Houston, Texas, USA Objectives Describe the cause of Down Syndrome Describe genetic counseling for parents of a child with Down Syndrome Identify three health issues that may require medical management in children with Down Syndrome New advances in treatment modalities 1
2 Down Syndrome Incidence 1/650 to 1/800 live births Most common chromosomal anomaly 95% are the result of trisomy 21 5% translocations (Robertsonian translocations): new or inherited Free trisomy 21 47,XY,+21 2
3 45,XX,t(15;21) translocation carrier 46,XX,der(14;21)(q10,q10),+21 DS patient 3
4 DS Recurrence Free trisomy 21 = 1% for future pregnancies Common Robertsonian translocations o 13q14q o 14q21q o 21q21q Recurrence risk (for 21q21q carrier parents) o 100% Recurrence risk for Robertsonian translocations (for 13q14q carrier parents) o Mother 5-7 % o Father 0-1 % Down Syndrome Clinical Findings Generalized hypotonia (low muscle tone) Microcephaly, brachycephaly Small and round ears Upslanting palpebral fissures, epicanthal folds, midface hypoplasia Tongue protrusion % Congenital heart defect (AV canal) GI anomalies: duodenal atresia, Hirschprung, celiac disease 4
5 Down Syndrome Clinical Findings Growth deficiency Low muscle tone Delay in development and cognitive delays: Increased incidence of Alzheimer. Broad and short neck with lots of skin folds Short broad hands with short fingers Single transverse palmar crease 5th finger clinodactyly Wide gap between 1st and 2nd toe Single transverse palmar crease increased distance between toes 5
6 Down Syndrome Clinical Findings Congenital heart defect in 40% (AV canal) Hypothyroidism GI anomalies: duodenal atresia, Hirschprung disease, celiac disease Hematologic: acute megakaryoblastic leukemia Hearing abnormalities Sleep apnea Feeding problems AAP Guidelines Pediatrics Vol. 128 No. 2 August 1, 2011 pp
7 AAP recommended screening (2001) Birth 2 mo 4 mo 6 mo 9 mo 12 mo 15 mo 18 mo 24 mo 3 yr 4 yr Growth Thyroid Hearing Vision Spine X-ray Echo CBC DS Management Medical management Home environment Early intervention Education Vocational training All can significantly affect the level of functioning of children and adolescents with Down 7
8 DS Management: Feeding problems Refer all infants who have marked hypotonia as well as infants with: slow feeding, choking with feeds, recurrent pneumonia, or other recurrent or persistent respiratory symptoms unexplained failure to thrive => radiographic swallowing assessment Hypothyroidism Hypothyroidism is common in DS (7-18%) Obtain thyroid-stimulating hormone (TSH) concentration if state newborn screening only measures free thyroxine (T4) Congenital hypothyroidism can be missed if only the T4 concentration is obtained in the NBS Many children with Down syndrome have mildly elevated TSH and normal free T4 levels. Because of increased risk of acquired thyroid disease, repeat measurement of TSH at 6 and 12 months of age and then annually 8
9 Ear Abnormalities and Hearing Atretic ear canals are common in DS Review the previous hearing evaluation (brainstem auditory evoked response [BAER, ABR] or otoacoustic emission If the child passed the screening study, rescreen at 6 months of age for confirmation Visualization of tympanic membranes is important to determine the presence of otitis media Review the risk of serous otitis media (50% 70%) Obstructive sleep apnea Brief pause in breathing during sleep Can be due to face structure, low muscle tone, large tonsils and obesity (?) Symptoms of snoring, insomnia, nighttime awakening, heavy breathing, daytime excessive sleepiness and behavioral changes Observed in about half of children with DS Risk of developing right heart failure de Miguel-Diez, et al, Sleep, 2003 Dyken, et al, Arch Pediatr Adolesc Med,
10 Obstructive sleep apnea Evaluation of sleep apnea: Sleep study Sleep center referral If OSA is present referral to ENT Typical treatment is to perform a tonsillectomy and adenoidectomy. If that does not help: night time breathing mask continuous positive airway pressure (CPAP) Celiac Disease Celiac disease is an intestinal disease caused by eating wheat gluten in genetically susceptible people 10
11 What is gluten? Gluten: complex mixture of many different proteins It is a component of: wheat barley rye Oat can be safely eaten (cross-contamination of oat with gluten is a concern) Rice and corn do not contain gluten What are the signs of celiac disease? Malabsorption syndrome Onset in childhood Chronic diarrhea or constipation Poor growth or weight loss Abdominal swelling In young children it may be seen a few weeks to months after they start eating solid food 11
12 Who gets celiac disease? Less than 1% of the Western European and North American populations suffer from CD Similar incidence in Africa, Asia and South America CD is one of the most frequent geneticallybased diseases of humans Down Syndrome and Celiac Disease Occurs in 3-10% of children with DS References: Bonamico, JPGN 2001 Carnicer, Eur J Gastr Hapatol 2001 Csizmadia, J Pediatr 2000 Hansoon, JPGN 1999 Mackey, Clin Pediatr 2001 Book, Am J Med Gen
13 Down Syndrome and Celiac Disease Often silent (no effect on weight and height) Delay in diagnosis of ~4 years from symptoms Chronic diarrhea or constipation Abdominal swelling Poor growth Celiac Disease Normal Celiac Disease Damage to the surface of the small intestine villous atrophy reduced surface area Malabsorption of iron, folic acid, calcium, fat-soluble vitamins 13
14 Celiac Disease How to test? A blood test checks Tissue Transglutaminase antibodies and detects ~95% of children with celiac disease How to confirm the diagnosis Intestinal biopsy Symptoms go away with gluten-free diet Blood cell abnormalities 14
15 Blood cell abnormalities in DS Red blood cells in 65% of newborns Disturbed immune cell function Excessive numbers of white blood cells (TMD) Acute myeloid leukemia Acute lymphoblastic leukemia Adaptive immune response in children with DS White blood cells that fight infections are divided into two general categories: cells that make antibodies (B-cells) cells that directly fight infection (T-cells) Both cell types do not increase appropriately during childhood T-cells gradually normalize over first ~15 years B-cells remain too low This in part explains the increased rate of infection De Hingh, et al J. Pediatrics,
16 Transient Myeloproliferative Disorder Seen in up to 10% of newborns with DS Clears up on its own by 2-3 months in most infants ~20% progress to leukemia by 1-4 years of age. Associated with mutations in GATA1, a gene on chromosome 21 that is required for normal bone marrow maturation. New classification: Myeloid leukemia of Down Syndrome (ML-DS) What is the chance a child with DS could get leukemia? Rare; 1/200 children with DS, but much higher than the population of all children (~20-60x) Often responds very well to chemotherapy Sensitivity to cancer drugs much higher; use lower doses Higher rate of complications from therapy 16
17 Clinical trials PHASE I TRIALS: Small number of healthy human subjects to test toxicity. PHASE II : Drug is administered to patients with the disease to establish proper dosages and to demonstrate effectiveness. PHASE III: Large multi-center studies enroll thousands of patients to test the drug s safety and effectiveness. PHASE IV: post-marketing surveillance. Average of ~10 years to complete Phase I through III The nervous system Synaptic endings 17
18 Nerve cell communication requires chemicals released from vesicles Animal models of Down syndrome Ts65Dn mouse o Trisomic for ~136 genes on chr 21 (out of 243 genes) o Shows learning and memory deficits o Defects in synaptic plasticity Deleting the extra copy of App - Amyloid Beta (A4) Precursor Protein, in Ts65Dn mice leads to normalization of NGF axonal transport in Ts65Dn mice. Mice overexpressing mutant APP show significant reduction in retrograde axonal transport of NGF Nerve growth factor (NGF) is a small secreted protein that is important for the growth, maintenance, and survival of certain target neurons. It also functions as a signaling molecule. 18
19 Brain and DS All individuals with DS exhibit cognitive dysfunction, although the profiles of affected individuals vary tremendously Neuropathological alterations associated with DS likely contribute to age-dependent Adults with DS exhibit reduced volume in cortical (frontal and temporal lobes) and hippocampal regions, widening of the sulci, and cerebellar atrophy 19
20 Brain and DS With advancing age, adults with DS develop brain pathology indistinguishable from that of Alzheimer's disease (AD), including the accumulation of amyloid plaques and neurofibrillary tangles Triplication of App- Amyloid Beta (A4) Precursor Protein leads to age dependent degeneration of both cholinergic and NE-ergic systems in Ts65Dn mice Dysfunction and degeneration of several neurotransmitterbased systems (i.e. cholinergic neurons in the basal forebrain, norepinephrinergic neurons of the locus coeruleus, and serotonergic neurons of the raphe nuclei in the brainstem) that extensively innervate both cortical and hippocampal regions has been reported in DS. Treatment Strategies A possible strategy for the treatment of cognitive dysfunction is to target the cholinergic, serotonergic, GABA-ergic, glutamatergic, and norepinephrinergic system. However, a fundamental strategy for treatment of cognitive dysfunction in DS would include reducing to normal levels the expression of specific triplicated genes in affected systems before the onset of neurodegeneration. Progress in Neuro-Psychopharmacology & Biological Psychiatry. Devsmita Das, Cristy Phillips,Wayne Hsieh, Krithika Sumanth, Van Dang, Ahmad Salehi. Prog Neuropsychopharmacol Biol Psychiatry 2014 Oct 3;54: PMID:
21 Increased cholinergic activity: a study in children with DS failed to conclusively demonstrate the benefits of donepezil on communication, socialization, and motor skills Rivastigmine is a dual AChE and butyrylcholinesterase inhibitor used for the treatment of mild to moderate dementia. A study on DS patients with AD found that this drug led to significantly slower rate of decline in neuropsychiatric symptomatology over a 6- month period but rivastigmine did not help DS adolescents Improving NEergic signaling: both1andβ2ar agonists are able to significantly improve contextual learning in Ts65Dn mice Formoterol a long-actingβ2ar agonist used for the treatment of asthma led to a significant improvement in cognitive function, a restoration of synaptic density, and increased dendritic tree complexity in the dentate gyrus of Ts65Dn mice (side effects in humans) Increasing 5-HT levels 5-HT is biochemically synthesized from an essential amino acid tryptophan found in the diet Early therapies targeting 5-HT-ergic system were directed toward increasing 5-HT levels in the circulation by administering oral 5-hydroxytryptophan (5-HTP). Increasing 5-HT contents in diet in DS adults with AD has been effective in reducing non-cognitive behaviors like self-injury and aggression The use of SSRIs in adults with DS reduced non-cognitive symptoms including aggression, obsessive compulsive disorders, ameliorating behavioral deficits, depression and social withdrawal, which led to an improvement in their workplace productivity pharmacological intervention Use of fluoxetine (SSRI) at an early age may have significant long-lasting effects on hippocampal circuits involved in cognitive function in mice 21
22 22
23 Summary DS is associated with cognitive dysfunction: early intervention is a must in children, new therapies are coming online who may benefits cognitive function in children and adults Medical issues to monitor include: thyroid function, sleep -> obstructive sleep apnea, celiac disease and other gastrointestinal problems, blood cell abnormalities. Neurotransmitter modulators and enzymes involved in nerve cell activity are actively being studied to rescue DS phenotypes 23
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