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                  <text>Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results</text>
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              <text>&lt;a href="http://doi.org/10.1002/ajmg.1320590412" target="_blank" rel="noreferrer noopener"&gt;http://doi.org/​10.1002/ajmg.1320590412&lt;/a&gt;</text>
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                <text>Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials</text>
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                <text>American Journal of Medical Genetics</text>
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            <name>Date</name>
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                <text>1995</text>
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                <text>Achondroplasia/co [Complications]; Adolescent; Adult Child; Child; Preschool; Evoked Potentials; Female; Humans; Infant; Male; Middle Aged; Respiration; Sleep Apnea Syndromes/et [Etiology]; Sleep Apnea Syndromes/th [Therapy]; Tonsillectomy; Weight Loss; breathing difficulties; achondroplasia; surgical interventions; physical interventions; adenotonsillectomy; losing weight; weight loss; CPAP; respiratory disturbance index</text>
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                <text>Waters  K A; Everett  F; Sillence  D O; Fagan  E R; Sullivan  C E</text>
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                <text>The occurrence of obstructive sleep apnea (OSA) is achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensory-evoked potentials (SEP's, 10 subjects) were recorded before and after conventional treatment of OSA in achondroplasia. The two groups were derived from 30 subjects who underwent diagnostic sleep studies and SEPs, including 15 females and 15 males with a median age 6.6 years (range 1.0-47.6) at the time of the first study. In 30 initial studies there was no correlation between severity of OSA and abnormalities on SEP evaluation. Treatment of 17 subjects included adenotonsillectomy (n = 3), weight loss (n = 1), and nasal-mask continuous positive airway pressure (CPAP) (n = 13). Sleep studies in 11 subjects after a delay of 8.8 +/- 2.8 months showed a reduction in respiratory disturbance index (RDI) from 38.4 +/- 6.9 to 6.5 +/- 1.8 events hr(-1) (p &lt; 0.001) and movements/arousals fell from 10.4 +/- 2.2 to 4.8 +/- 0.2 hr(-1) (p &lt; 0.04). Obstructive events were reduced from 33.7 +/- 6.9 to 2.4 +/- 1.0 hr(-1) (p &lt; 0.001). Improvement of respiratory indices was associated with an increased proportion of slow-wave sleep from 25.2 +/- 4.0% to 32.3 +/- 2.4% (p = 0.01), and decrease in stage 1-2 sleep from 59.3 +/- 5.8% to 46.6 +/- 1.9% (p = 0.03). There was no increase in the percentage of REM sleep (15.2 to 21.2%). Repeat SEP studies in 10 subjects, after clinically effective treatment of OSA, showed improvement of SEP score of at least 1 grade, in 5 of 7 (71%) with initially abnormal values. We conclude that treatment of relieve upper airway obstruction improves OSA in achondroplasia, accompanied by changes in sleep structure and, in some cases, improved studies of neurological function.</text>
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                <text>&lt;a href="http://doi.org/10.1002/ajmg.1320590412" target="_blank" rel="noreferrer noopener"&gt;10.1002/ajmg.1320590412&lt;/a&gt;</text>
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            <description>Information about rights held in and over the resource</description>
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              <elementText elementTextId="125219">
                <text>Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).</text>
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        <name>adenotonsillectomy</name>
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        <name>Adolescent</name>
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        <name>American Journal Of Medical Genetics</name>
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        <name>breathing difficulties</name>
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        <name>Everett  F</name>
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        <name>Evoked Potentials</name>
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        <name>Fagan  E R</name>
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        <name>Female</name>
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        <name>losing weight</name>
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        <name>Sleep Apnea Syndromes/et [Etiology]</name>
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        <name>Waters  K A</name>
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        <name>Weight Loss</name>
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                  <text>Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results</text>
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              <text>&lt;a href="http://doi.org/10.1136/adc.69.2.191" target="_blank" rel="noreferrer noopener"&gt;http://doi.org/​10.1136/adc.69.2.191&lt;/a&gt;</text>
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          <element elementId="50">
            <name>Title</name>
            <description>A name given to the resource</description>
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              <elementText elementTextId="125220">
                <text>Breathing abnormalities in sleep in achondroplasia</text>
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            <name>Publisher</name>
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              <elementText elementTextId="125221">
                <text>Archives in Disease in Childhood</text>
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            <name>Date</name>
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              <elementText elementTextId="125222">
                <text>1993</text>
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          <element elementId="49">
            <name>Subject</name>
            <description>The topic of the resource</description>
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                <text>breathing difficulties; achondroplasia; trajectory; characteristics; upper airways obstruction</text>
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            <name>Creator</name>
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              <elementText elementTextId="125224">
                <text>Waters  K A; Everett  F; Sillence  D; Fagan  E; Sullivan  C E</text>
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            <name>Description</name>
            <description>An account of the resource</description>
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                <text>Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apnoea index (greater than five per hour). Other sleep associated respiratory abnormalities, including partial obstruction, central apnoea, and abnormal electromyographic activity of accessory muscles of respiration, also showed a high prevalence. SEPs were abnormal in eight (42%), but there was no correlation between abnormal SEPs and apnoea during sleep, either qualitatively or quantitatively. A high prevalence of both sleep related respiratory abnormalities and abnormal SEPs in young subjects with achondroplasia was demonstrated. However, the sleep related respiratory abnormalities do not always result in significant blood gas disturbances or correlate with abnormal SEPs in this group.</text>
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                <text>&lt;a href="http://doi.org/10.1136/adc.69.2.191" target="_blank" rel="noreferrer noopener"&gt;10.1136/adc.69.2.191&lt;/a&gt;</text>
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            <name>Rights</name>
            <description>Information about rights held in and over the resource</description>
            <elementTextContainer>
              <elementText elementTextId="125228">
                <text>Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).</text>
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