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Clinical case
Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
Inicio temprano de discapacidad intelectual en el Síndrome de deleción del cromosoma 22q11.2
Marco Cascellaa,
Corresponding author
m.cascella@istitutotumori.na.it

Corresponding author.
, Maria Rosaria Muziob
a Division of Anesthesia, Department of Anesthesia, Endoscopy and Cardiology, Instituto Nazionale Tumori “Fondazione G. Pascale” – IRCSS, Naples, Italy
b Division of Infantile Neuropsychiatry, UOMI–Maternal and Infant Health, Asl NA 3 SUD, Torre del Greco, via Marconi, 66, 80059 Torre del Greco, NA, Italy
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Chromosome 22q11&#46;2 deletion syndrome &#40;22q11DS&#41;&#44; previously also known as DiGeorge syndrome or velocardiofacial syndrome&#44; is a complex genomic disorder caused in most cases by a hemizygous 3-megabase microdeletion from chromosome 22 at band q11&#46;2&#46; The 22q11DS can shows several clinical abnormalities and different degrees of organ commitment&#46;<a class="elsevierStyleCrossRef" href="#bib0130"><span class="elsevierStyleSup">1</span></a> More than 180 clinical features&#44; have been described&#44; not only physical but behavioral and psychiatric&#44; too&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">2</span></a> Children and adults with 22q11DS have high rates of behavioral&#44; psychiatric&#44; and communication disorders&#46; In children&#44; these include attention deficit&#47;hyperactivity disorder&#44; anxiety&#44; and affective disorders&#46; Adults have a high rate of psychotic disorders&#44; particularly schizophrenia&#46;<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">3</span></a> Population 22q11DS usually have a below-borderline normal intelligence quotient &#40;IQ&#41;&#44; with most individuals having higher scores in the verbal than the nonverbal domains&#46; Some are able to attend normal schools&#44; while others are homeschooled or in special classes&#46; The severity of hypocalcemia early in childhood is associated with autism-like behavioral difficulties&#46;<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">4</span></a> The objective of this study was to report a case of 22q11DS with both early assessment of mild intellectual disabilities &#40;ID&#41; and tetralogy of Fallot &#40;TOF&#41; as only clinical manifestation&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 13 years old Caucasian male is followed by our infantile neuropsychiatry team&#44; since he was 3 years old&#46; He came to our observation for both severely expressive language deficits and motor dysfunction&#46; The personal anamnesis showed the intrauterine diagnosis of TOF&#44; however at birth there were no perinatal asphyxia &#40;APGAR score was 8 at 1<span class="elsevierStyleHsp" style=""></span>min and 9 at 5<span class="elsevierStyleHsp" style=""></span>min&#41;&#46; He was born with labor at term via spontaneous vaginal delivery&#44; weighing 3017<span class="elsevierStyleHsp" style=""></span>g&#46; TOF was managed with a two-stage repair strategy with an initial palliation &#40;systemic-to-pulmonary shunt operation at the age of 2 months&#41; followed by later repair &#40;transanular repair at the age of 18 months&#41;&#46; Family history was non-contributory&#46; Because of the presence of this heart defect&#44; testing for the 22q11DS was performed&#46; A 22q11&#46;2 FISH genetic analysis with LSI DiGeorge N25&#40;D22S75&#41; and LSI DiGeorge&#47;VCFS &#40;Vysis&#41; probes showed a microdeletion from chromosome 22 at band q11&#46;2&#46; At the age of 4 years old the child showed difficulties of acquiring vocabulary and formulating a spoken language&#46; His motor dysfunction consisted in performance of motor coordination&#44; significantly below the expected level for his age &#40;developmental coordination disorder&#41;&#46; At first&#44; full-scale IQ was assessed by using Wechsler Preschool and Primary Scale of Intelligence &#40;WPPSI&#41;&#46; This test showed an IQ of 54&#44; suggestive for a mild ID&#44; confirmed with both the Raven Progressive Matrices at the age of 7 years old&#44; and the Wechsler Intelligence Scale for Children &#40;WISC-R<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>51&#41; at the age of 10 years old&#46; The last IQ test administered &#40;WISC IV<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>52 at the age of 12 years old&#41;&#44; further confirmed the degree of the intellectual development disorder &#40;ICD-11&#41;&#44; with deficits in sustained attention&#44; working memory&#44; executive function&#44; verbal learning&#44; and visual&#8211;spatial processing&#46; The parents had a good educational level &#40;high school&#41; showing a normal IQ &#40;WAIS-III&#41;&#46; TOF was the only physic manifestation of 22q11DS&#46; There were no other features such as facial dysmorphisms and immunodeficiency&#44; as well as hypocalcemia&#44; gastroesophageal reflux and atopy&#46; Furthermore&#44; the nasopharyngoscopy did not show any palate anomalies&#46; The child received educational services with psychomotor education until he was 7 years old and logopedy until the age of 10 years old&#59; furthermore at this age he started a program of occupational therapy&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0015" class="elsevierStylePara elsevierViewall">Chromosome 22q11DS is one of the most common multiple anomaly syndromes in humans with a population prevalence ranging from approximately 12&#44;000 to 16&#44;000&#46;<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">5</span></a> Although a large number of clinical features have been reported in association with 22q11DS&#44; the anomalies that have attracted the greatest amount of attention are the behavioral and developmental&#46; While Shprintzen et al&#46;<a class="elsevierStyleCrossRef" href="#bib0155"><span class="elsevierStyleSup">6</span></a> described at first psychiatric disorders in 22q11DS&#44; a lot of researchers studied 22q11&#46;2 resided genes&#44; influencing psychiatric phenotypes&#46;<a class="elsevierStyleCrossRefs" href="#bib0160"><span class="elsevierStyleSup">7&#44;8</span></a> According to Shprintzen it is not yet clear what biologic basis of mental illness in 22q11DS&#44; however the syndrome is an clinical model for understanding psychiatric disorders&#44; especially psychosis&#44; in humans&#46;<a class="elsevierStyleCrossRef" href="#bib0170"><span class="elsevierStyleSup">9</span></a> People with 22q11DS have a 30-fold risk of developing schizophrenia&#44; suggesting that the 22q11&#46;2 deletion can be considered the highest known genetic risk factor for schizophrenia&#46;<a class="elsevierStyleCrossRefs" href="#bib0175"><span class="elsevierStyleSup">10&#44;11</span></a> The neurocognitive profile is also highly variable&#44; both between individuals and during the course of development&#46;<a class="elsevierStyleCrossRef" href="#bib0185"><span class="elsevierStyleSup">12</span></a> It is well known that schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis&#46;<a class="elsevierStyleCrossRef" href="#bib0185"><span class="elsevierStyleSup">12</span></a> Duijff et al&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">13</span></a> studying the cognitive development in children with 22q11DS&#44; suggested that the finding of cognitive decline can be only partly explained as the result of &#8216;growing into deficit&#8217;&#59; indeed in their study about a third of children with the syndrome showed an absolute loss of cognitive faculties previously acquired&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">13</span></a> Recently&#44; results from the International Consortium on Brain and Behavior in 22q11DS have been published&#46;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">14</span></a> This study confirms previous findings that this syndrome is one of the most important risk factors for psychosis&#44; because the authors report an high prevalence of schizophrenia spectrum disorders&#59; indeed attention deficit hyperactivity disorder &#40;ADHD&#41; as well as mood and anxiety disorders were also prevalent&#46; Severe cognitive impairment was associated with schizophrenia spectrum disorders&#44;<a class="elsevierStyleCrossRef" href="#bib0195"><span class="elsevierStyleSup">14</span></a> however this result can be detected in both 22q11DS patients and general population&#46; The association of developmental delays &#40;particularly in language&#41; are very common in patients with 22q11DS&#46; While our patient did not present any psychiatric disorders&#44; nevertheless he was last assessed at age 12 years&#44; so subsequent development of psychosis cannot be excluded&#59; indeed according to Vorstman et al&#46;&#44;<a class="elsevierStyleCrossRef" href="#bib0200"><span class="elsevierStyleSup">15</span></a> the early cognitive decline is a strong indicator of the risk of developing psychosis and our commitment will be to follow the patient in years&#46; The real peculiarity was the early ID rather than a more specific cognitive decline&#46; A lot of studies demonstrated that cognitive impairments are common in individuals with 22q11DS with a mean IQ of 75&#44;<a class="elsevierStyleCrossRefs" href="#bib0205"><span class="elsevierStyleSup">16&#8211;18</span></a> suggesting that other factors contribute to adaptive functioning in this population&#44; such as poorer socialization and communication skills&#46;<a class="elsevierStyleCrossRef" href="#bib0220"><span class="elsevierStyleSup">19</span></a> Our patient showed a cognitive deficit with both early onset and IQ less than commonly observed in 22q11DS&#46; Tarsitano et al&#46;<a class="elsevierStyleCrossRef" href="#bib0225"><span class="elsevierStyleSup">20</span></a> described a case of 22q11DS associated with ID&#44; however in their case there were evident dysmorphic features and an additional genomic disorder &#40;duplication in 8q22&#46;1&#41;&#46; Dysmorphic facial features with attention disorder and learning difficulties were present in two cases described in literature&#44; however in this double report there were not information about the degree of intellectual development disorder assessed with any full-scale IQ&#46;<a class="elsevierStyleCrossRef" href="#bib0230"><span class="elsevierStyleSup">21</span></a> In our case there were not neonatal hypocalcemia and&#47;or seizures&#46; This is another particularity of our case&#44; because according to Cheung et al&#46;<a class="elsevierStyleCrossRef" href="#bib0235"><span class="elsevierStyleSup">22</span></a> both two conditions are associated with the severity of ID&#46; The results of several studies confirm that palate anomalies are very common in this syndrome<a class="elsevierStyleCrossRefs" href="#bib0240"><span class="elsevierStyleSup">23&#44;24</span></a>&#59; so these features require recognition and treatment and may impact cognitive evaluation&#46; Although the palate anomalies such as submucous cleft palate and velopharyngeal insufficiency are common&#44; and these conditions if underdiagnosed can contribute to speech and language delays&#44; however in our patient the nasopharyngoscopy did not show any sign of palate anomalies&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusion</span><p id="par0020" class="elsevierStylePara elsevierViewall">Chromosome 22q11DS is relatively common and this diagnosis should be considered in patients who have TOF features accompanied by psychiatric and behavioral disorders&#46; It is important that we remain open to the more subtle manifestations of 22q11DS because this syndrome remains undiagnosed in many children&#46; Our case is a particular report of 22q11DS for the early mild intellectual disabilities with an early ID rather than a more specific cognitive decline&#46;<a class="elsevierStyleCrossRef" href="#bib0190"><span class="elsevierStyleSup">13</span></a> The guidelines also state clearly that dysmorphic features can be subtle in some children with 22q11DS&#46;<a class="elsevierStyleCrossRef" href="#bib0250"><span class="elsevierStyleSup">25</span></a> However&#44; to our knowledge&#44; the combination of early onset mild ID with no other features such as facial dysmorphisms&#44; palate anomalies&#44; immunodeficiency&#44; hypocalcemia&#44; gastroesophageal reflux and atopy is an unusual clinical manifestation of 22q11DS&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conflict of interest</span><p id="par0030" class="elsevierStylePara elsevierViewall">This article meets all requirements about informed consent&#47;acknowledgement&#44; ethics committee&#44; funding&#44; animal research and lack conflict of interest&#44; as appropriate&#46;</p></span></span>"
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          "titulo" => "Conflict of interest"
        ]
        9 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2015-05-11"
    "fechaAceptado" => "2015-06-30"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec584523"
          "palabras" => array:7 [
            0 => "DiGeorge syndrome"
            1 => "Velocardiofacial syndrome"
            2 => "Microdeletion syndrome"
            3 => "22q11 deletion syndrome"
            4 => "Tetralogy of Fallot"
            5 => "Cognitive impairment"
            6 => "Intellectual disability disorders"
          ]
        ]
      ]
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec584522"
          "palabras" => array:7 [
            0 => "S&#237;ndrome de DiGeorge"
            1 => "S&#237;ndrome velocardiofacial"
            2 => "S&#237;ndrome de microdeleci&#243;n"
            3 => "S&#237;ndrome de deleci&#243;n 22q11"
            4 => "Tetralog&#237;a de Fallot"
            5 => "Deterioro cognitivo"
            6 => "Trastornos de discapacidad intelectual"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "en" => array:2 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Chromosome 22q11&#46;2 deletion syndrome&#44; or DiGeorge syndrome&#44; or velocardiofacial syndrome&#44; is one of the most common multiple anomaly syndromes in humans&#46; This syndrome is commonly caused by a microdelection from chromosome 22 at band q11&#46;2&#46; Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment&#44; the clinical features that have driven the greatest amount of attention are behavioral and developmental features&#44; because individuals with 22q11&#46;2 deletion syndrome have a 30-fold risk of developing schizophrenia&#46; There are differing opinions about the cognitive development&#44; and commonly a cognitive decline rather than an early onset intellectual disability has been observed&#46; We report a case of 22q11&#46;2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation&#46;</p></span>"
      ]
      "es" => array:2 [
        "titulo" => "Resumen"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome del cromosoma 22q11&#46;2&#44; tambi&#233;n conocido como supresi&#243;n o s&#237;ndrome de DiGeorge o s&#237;ndrome velocardiofacial&#44; es uno de los s&#237;ndromes m&#225;s comunes de anomal&#237;as m&#250;ltiples en los seres humanos&#46; Este s&#237;ndrome es com&#250;nmente causado por una microdeleci&#243;n del cromosoma 22 en q11&#46;2 banda&#46; Aunque este trastorno gen&#233;tico muestra varias anomal&#237;as cl&#237;nicas y diferentes grados de compromiso org&#225;nico&#44; las caracter&#237;sticas cl&#237;nicas que han atra&#237;do la mayor atenci&#243;n son el comportamiento y el desarrollo&#44; porque las personas con s&#237;ndrome de deleci&#243;n 22q11&#46;2 tienen un riesgo 30 veces mayor de desarrollar esquizofrenia&#46; Hay diferentes opiniones sobre el desarrollo cognitivo&#44; y com&#250;nmente se se ha observado un deterioro cognitivo en lugar de un inicio temprano de discapacidad intelectual&#46; Presentamos un caso de s&#237;ndrome de deleci&#243;n 22q11&#46;2 tanto con la evaluaci&#243;n temprana de discapacidades intelectuales leves como con la tetralog&#237;a de Fallot como &#250;nica manifestaci&#243;n f&#237;sica&#46;</p></span>"
      ]
    ]
    "NotaPie" => array:1 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Cascella M&#44; Muzio M&#46; R&#46; Inicio temprano de discapacidad intelectual en el S&#237;ndrome de deleci&#243;n del cromosoma 22q11&#46;2&#46; Rev Chil Pediatr&#46; 2015&#59;86&#58;282&#46;</p>"
      ]
    ]
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ISSN: 03704106
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