data: Thu, 5 Dec 2002
Da: "Milena"
A: "Conosciamocimeglio Down" <info@conosciamocimeglio.it>

Mi rivolgo a voi per un piccolo consiglio sulla mia bambina Down di sette anni.
Scusate, sono Milena e già altre volte ho scritto rispondendo anche ai questionari.
Il mio problema (tra i tanti) che attualmente mi preoccupa è che Alessia è da un paio d'anni che la notte non riposa bene.
All'inizio abbiamo dato la colpa, per il fatto che abbiamo cambiato casa e quindi anche molte abitudini sopratutto di Alessia (prima dormira nella stessa camera del fratello, adesso ha una sua cameretta che ho cercato di arredare con molta cura) adesso, credetemi io e mio marito non ce la facciamo più, perchè la notte si alza e viene nel nostro letto e si agita in continuazione, non dormendo bene lei e naturalmente anche noi.

Qui si seguito rispondono il neurofisiologo, la neuropsichiatra infantile, e la pediatra.

Date: Tue, 10 Dec 2002
From: "Oliviero Bruni"
To: "Milena"

Bisognerebbe conoscere meglio la tipologia del disturbo ed in particolare i
motivi per cui la bambina si sveglia.
I risvegli notturni ad esordio a 5 anni non sono un'evenienza frequente.
Non ho poi capito se il risveglio è unico o sono molti e se si tratta solo di un risveglio e quando la bambina va nel letto dei genitori loro non dormono perchè la bambina si muove e si agita.
In effetti verrebbe subito da pensare ad un'apnea di tipo ostruttivo, anche se nei bambini Down sono state riscontrate anche molte apnee centrali, come da disfuzione del centro cardio-respiratorio.
E' corretto inviarla dall'ORL, come suggerisce la pediatra, ma sarebbe più corretto fare anche una polisonnografia per valutare il tipo di apnea.
Posso essere contattato al telefono o via e-mail

Cari saluti
Dr. Oliviero Bruni

Centro per lo Studio dei Disturbi del Sonno in Età Evolutiva
Dip. di Scienze Neurologiche e Psichiatriche dell’Età Evolutiva
Università di Roma "La Sapienza"
Via dei Sabelli 108 00185 ­ Roma
Tel. +39+06+44712257 - Fax +39+06+4957857
e-mail: oliviero.bruni@uniroma1.it

data: Wed 11 Dec 2002
Da: "Maria Giulia Torrioli"
A: "Milena"

La cosa più corretta sarebbe di chiarire prima con i genitori perchè la bambina si comporta in questo modo.
Non so dove vive la famiglia, e se la via è percorribile.
Se non fosse possibile, penso che si potrebbe far prescrivere dal pediatra la melatonina da prendere la sera subito prima di andare a letto.
In alcuni casi può essere un primo aiuto.

M.Giulia Torrioli
Neuropsichiatra infantile
Università Cattolica

data: Mon 9 Dec 2002
Da: "Conosciamocimeglio Down" <info@conosciamocimeglio.it>
A: "Milena"

Gentile signora,
i disturbi del sonno possono essere collegati ad alcune caratteristiche della sindrome di Down. Le più frequenti sono legate a situazioni ORL favorenti le apnee notturne. Di questo vi consigliamo di parlare con il vostro medico e di chiedere una consulenza specialistica ORL.
Per praticità e per poterne parlare con il vostro medico, vi riportiamo in fondo alcune notizie che per ora non abbiamo tradotto in italiano, ma possono essere servire da rapido orientamento sull'argomento ORL.

In alcuni casi i disturbi del sonno devono essere considerati dal neuropsichiatra infantile, il quale può anche prendere in considerazione l'uso di farmaci.
È importante non trascurare questi disturbi, perchè comportano un disagio importante per l'equilibrio familiare, e una situazione di difficoltà aggiuntiva allo sviluppo cognitivo e relazionale del bambino con sindrome di Down.

È quindi assolutamente legittimo la vostra preoccupazione e il desiderio di trovare al più presto una soluzione.

Cordiali saluti
Flavia Luchino
pediatra di famiglia

PS.:
orientamenti bibliografici per il vostro medico.

J Pediatr 1999 Jun;134(6):755-60
Sleep characteristics in children with Down syndrome.

Levanon A, Tarasiuk A, Tal A.

Sleep Wake Disorders Unit, Department of Physiology, and Department of
Pediatrics and Pediatric Pulmonary Unit, Soroka Medical Center, Faculty of
Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

BACKGROUND: Obstructive sleep apnea syndrome is common in children with
Down syndrome (DS). Little is known about sleep patterns, especially
arousals, awakenings, and movements during sleep in children with DS.
OBJECTIVE: To determine the characteristics of sleep disorders in children
with DS and to define the associations between respiratory disturbance and
arousals, awakenings, and movements. METHODS: The study included 23
children with DS, compared with 13 children with primary snoring. All
underwent a 6- to 8-hour sleep study. RESULTS: The respiratory disturbance
index was significantly higher in the children with DS (2.8 +/- 2.3
events/h vs 0.6 +/- 0.4 events/h; P <.05). Sleep was significantly
fragmented in children with DS, who had a significantly higher
arousal/awakening (A/Aw) index (24.6 +/- 7.9 events/h) compared with the
comparison group (17.6 +/- 4.0 events/h) (P <.02). A higher percentage of
jerks associated with A/Aw and respiratory event-associated A/Aw was
observed in patients with DS (45.2% +/- 25% and 8.6% +/- 6.4%,
respectively) compared with the control patients (10.2% +/- 4.5% and 1.5%
+/- 2.1%) (P <.02). The median length of occurrences of stage 2 sleep was
27% shorter in the DS group (P <.03). The number of shifts from "deeper"
to "lighter" stages of non-rapid eye movement sleep was 30% greater (P
<.02) in the DS group. CONCLUSION: Children with DS have significant sleep
fragmentation, manifested by frequent awakenings and arousals, which are
only partially related to obstructive sleep apnea syndrome.

http://www.ds-health.com/apnea.htm
Obstructive Sleep Apnea and DS
by Dr. Len Leshin, MD, FAAP
Copyright 1997-2000, All rights reserved

Apnea (literally, "without breath") is the term used when someone stops
breathing for very short periods of time, usually 10 to 20 seconds. It's
termed "obstructive" when respiratory efforts continue, such as movements
of the chest. It's termed "central" when all respiratory effort stops.
There is also a mixed version. In children, sleep apnea is almost always
obstructive. During the apneic episode, the child will have decreased
oxygenation of the blood.
Symptoms of Obstructive Sleep Apnea (OSA) are: snoring,
restless/disturbed sleep, frequent partial or total wakenings and daytime
mouth breathing. Some children with OSA have odd sleep positions, often
with their neck bent backwards, or even in a sitting position. Some
children with OSA sweat profusely during sleep. In adults, there is an
association of obesity, but that's not a common association in children.
Some children will have daytime grumpiness or sleepiness, but it's not
common. Some children may have noisy swallowing also.
Children with Down syndrome (DS) are certainly at risk for OSA. In 1991,
one study showed 45% had OSA. This can be caused by several different
factors present in DS: the flattened midface, narrowed nasopharyngeal area,
low tone of the muscles of the upper airway and enlarged adenoids and/or
tonsils.
Why is this important? Well, first, there's the obvious problem of the
child not getting enough quality sleep and the behavioral effects that
brings. Second, I've mentioned above that during sleep apnea, the
oxygenation of the blood decreases. It has been shown that in children with
DS and heart disease, the low oxygen causes an increase in the blood
pressure in the lungs as the body tries to get more oxygen. This "pulmonary
hypertension" can cause the right side of the heart to become enlarged and
other cardiac complications an follow; there have been other theories
proposed for this association as well. The incidence of death due to OSA is
unknown.

If you're unsure if your child has OSA, the way to test is through a sleep
study, also called polysomnography. This test is performed overnight in a
hospital (though some doctors will do "nap somnography") and consists of
continuous monitoring of the oxygen in the blood, as well as monitoring
chest wall movements (to assess respiratory efforts) and the flow of air
through the nose. Some doctors also measure carbon dioxide in the blood or
exhaled air. This is usually performed by otolaryngologists or
neonatologists.

The treatment of OSA is usually removal of adenoids and/or tonsils. Various
studies have been done on children with DS, and this appears to cure OSA in
a good percentage of cases, but not all. In cases where there is some
concern regarding the effectiveness of the surgery, then post-surgical
polysomnography is needed. In severe cases, a procedure
called "uvulopalatopharyngoplasty" (UPP) is performed; this is basically
for children with large and floppy soft palates. Some children with severe
OSA also have a narrowing of the laryngotracheal area, which explains some
failures after surgery. Other surgeries to enlarge the midfacial area have
also been proposed for severe cases.

In adults and children in whom surgical treatment has failed or was not
indicated, one therapy is "continuous partial airway pressure," or CPAP.
This is administered by a nasal mask or tube during sleep. The tube/mask
administers air with an amount of pressure designed to keep the airway
open.

One final note about adenotonsillectomies in children with DS: this should
not be considered day surgery. Studies have shown that after T&A's,
children with DS have longer periods of decreased oxygenation and a slower
time to recovery.

References:

Obstructive sleep apnea in children with Down syndrome. Marcus CL et al.
Pediatrics 88(1): 132-139, 1991.

Tonsillectomy and adenoidectomy in patients with Down syndrome. Bower CM &
Richmond D. Int J Ped Otorhinolayngol 33: 141-148, 1995.

Sleep-disordered breathing and behavior in three risk groups: preliminary
findings from parental reports. Carskadon MA et al. Child's Nerv Syst 9:452-
457, 1993.

Upper airway obstruction in children with Down syndrome. Jacobs IN et al.
Arch Otolaryngol Head neck Surg 122: 945-950, 1996.

Down syndrome: Identification and surgical management of obstructive sleep
apnea. Lefaivre J et al. Plastic Reconstr Surg 99(3): 629-637, 1997.

Obstructive Sleep Apnea in Infants and Children, Carroll JC and Loughlin,
in Principles and Practices of Sleep Medicine in the Child (pp163-216), ed.
by Ferber R & Kryger M. WB Saunders, 1995.