see publications<\/a>). More individuals will be diagnosed as genomic testing is more commonly used for undiagnosed intellectual disability.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”4.16″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off” global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_divider show_divider=”off” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”4.16″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” 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header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off” global_colors_info=”{}”]<\/p>\n
Maschi con condizione correlata a CLCN4<\/h2>\n
[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.16″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n
Finora questa condizione \u00e8 sempre risultata completamente penetrante nei maschi affetti. Tuttavia, la gravit\u00e0 dei sintomi pu\u00f2 variare significativamente in una famiglia. La presenza di un disturbo convulsivo intrattabile \u00e8 solitamente associata ad un fenotipo pi\u00f9 grave. Le principali caratteristiche cliniche dei maschi e delle femmine pubblicate sono riassunte di seguito: 1. Disabilit\u00e0 intellettuale (ID):<\/strong> presente nel 100% dei maschi affetti. La gravit\u00e0 della disabilit\u00e0 intellettiva \u00e8 variata da borderline (1\/30: 3%), a lieve (7\/30: 23%), moderata 9\/30 (30%) e grave\/profonda (13\/30 :43%). Il linguaggio espressivo e ricettivo \u00e8 comunemente un’area di particolare preoccupazione. 2. Il disturbo convulsivo<\/strong> \u00e8 stato diagnosticato nel 53% dei maschi affetti. Le convulsioni sono state ben controllate nel 44% di quelli con convulsioni e intrattabili alla politerapia nel 55% di quelli con convulsioni. La semiologia delle convulsioni pu\u00f2 variare da convulsioni infrequenti, ben controllate con la monoterapia a gravi epilessie intrattabili ad insorgenza infantile, anche all’interno di una famiglia. I tipi di convulsioni riportati includono spasmi infantili, assenza, mioclonico, tonico, parziale complesso e tonico-clonico generalizzato. I risultati EEG riportati includono picchi focali, picchi multifocali e rallentamento di fondo generalizzato. 3. Problemi comportamentali\/disordini di salute mentale<\/strong> (19\/30 (63%). Alcuni maschi sono stati segnalati come di personalit\u00e0 amabile senza significativi comportamenti impegnativi o problemi di salute mentale, ma al 63% sono stati segnalati significativi problemi comportamentali o di salute mentale tra cui comportamento etero e auto-aggressivo, comportamento ripetitivo di tipo autistico o ossessivo-compulsivo e iperattivit\u00e0. Sintomi depressivi o di ansia sono stati riportati nel 24% dei maschi, compresa una diagnosi di disturbo bipolare. 4. Sintomi neurologici aggiuntivi Infantile:<\/strong> l’ipotonia \u00e8 stata riportata in 9 maschi in 7 famiglie. Ulteriori segni neurologici riportati nell’infanzia hanno incluso strabismo (3 maschi), deficit visivo corticale (2 maschi), anomalia dell’andatura (1 maschio), movimenti coreiformi degli arti superiori (1 maschio) e spasticit\u00e0 evolutiva degli arti superiori \/ generalizzata nell’infanzia (2 maschi). Atassia progressiva e\/o spasticit\u00e0 degli arti inferiori sono state descritte dopo la terza decade in 4 maschi di 2 famiglie. Saranno necessari ulteriori dati longitudinali per valutare quanto siano comuni i sintomi neurologici progressivi nei maschi affetti. 5. Anomalie di neuroimmagine\/neuropatologia<\/strong> sono state notate in 8 maschi esaminati in 6 famiglie. Tuttavia, molti maschi non sono stati sottoposti a neuroimaging: la risonanza magnetica cerebrale era normale in altri 4 maschi. Anomalie della materia bianca e atrofia corticale erano caratteristiche: la leucomalacia periventricolare e\/o la dilatazione ventricolare sono state notate nell’infanzia con caratteristiche aggiuntive di mielinizzazione ritardata e corpo calloso ipoplasico nella prima infanzia e atrofia corticale ed et\u00e0 media e avanzata. 6. Parametri di crescita e dismorfismo<\/strong> I tratti distintivi comuni negli individui maschi pi\u00f9 anziani comprendevano un viso lungo con naso dritto e un mento prominente a punta, che diventa pi\u00f9 ‘squadrato’ con l’et\u00e0, e una faccia centrale relativamente piatta. I tratti facciali non sono cos\u00ec caratteristici nei maschi pi\u00f9 giovani. I parametri di crescita sono generalmente all’interno della gamma normale, tuttavia molti individui anziani hanno un habitus corporeo magro e sono state notate sia micro che macrocefalie. 7. Caratteristiche aggiuntive:<\/strong> Non \u00e8 stato riportato alcun modello coerente di sintomi extra-neurocognitivi, e molte caratteristiche sono comunemente viste in bambini con ID di altre cause: incluso reflusso gastroesofageo e difficolt\u00e0 di alimentazione precoce. Scoliosi, criptorchidismo ed ernia inguinale sono stati riportati occasionalmente.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”4.16″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off” global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_divider show_divider=”off” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Get Involved” _builder_version=”4.16″ background_color=”#f7f9f9″ background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png” parallax=”on” custom_padding=”0|1px|102px|0px|false|false” use_custom_width=”on” custom_width_px=”1200px” custom_width_px__hover=”1080px” custom_width_px__hover_enabled=”1080px” custom_width_percent__hover=”80%” custom_width_percent__hover_enabled=”80%” collapsed=”off” global_colors_info=”{}” gutter_width__hover=”3″ gutter_width__hover_enabled=”3″ parallax_1__hover=”off” parallax_1__hover_enabled=”off” parallax_2__hover=”off” parallax_2__hover_enabled=”off” parallax_3__hover=”off” parallax_3__hover_enabled=”off” parallax_method_1__hover=”on” parallax_method_1__hover_enabled=”on” parallax_method_2__hover=”on” parallax_method_2__hover_enabled=”on” parallax_method_3__hover=”on” parallax_method_3__hover_enabled=”on” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” 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Femmine eterozigoti con varianti familiari (18 individui pubblicati)<\/h2>\n
[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb content_max_width=”800px” _builder_version=”4.16″ header_font=”|700|||||||” header_font_size=”16px” header_line_height=”2em” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n
Il fenotipo nelle femmine con varianti CLCN4 familiare \u00e8 stato segnalato per essere sorprendentemente variabile, che vanno da apparentemente completamente non affetti a gravemente colpiti, anche all’interno di una famiglia. Due portatori femminili obbligati di una famiglia hanno notato di avere sottili difficolt\u00e0 di apprendimento\/comportamento. Una femmina eterozigote di un’altra famiglia aveva una grave ID, un disturbo convulsivo intrattabile, atrofia cerebrale, spasticit\u00e0 progressiva e atassia. Nessuna diagnosi alternativa \u00e8 stata trovata in questa femmina gravemente colpita.<\/p>\n
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Femmine eterozigoti con varianti de novo (5 individui pubblicati)<\/h2>\n
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Il fenotipo nelle 5 femmine eterozigoti riportate con varianti de novo \u00e8 stato trovato pi\u00f9 grave e coerente con il fenotipo nei maschi emizigoti. 1. Disabilit\u00e0 intellettuale<\/strong> Una femmina affetta aveva borderline, 2 avevano moderato e 2 avevano grave-profondo disabilit\u00e0 intellettuale; ancora una volta lo sviluppo del linguaggio, soprattutto il linguaggio espressivo, \u00e8 stato notato come un’area di particolare preoccupazione. 2. Disturbo convulsivo<\/strong> Due ragazze con varianti de novo hanno disturbi convulsivi di varia gravit\u00e0. 3. Condizioni comportamentali\/di salute mentale<\/strong> Due ragazze hanno comportamenti autolesionistici, una \u00e8 stata valutata come emotivamente reattiva; le altre due ragazze non avevano problemi comportamentali significativi. 4. Sintomi neurologici<\/strong> Tre bambine avevano ipotonia infantile e una ha sviluppato un tono periferico leggermente aumentato con riflessi patellari vivaci. 5. Cambiamenti di neuroimaging<\/strong> Quattro bambine avevano neuroimaging da MRI: riportato come normale per 2; c’era sottile neuropatologia negli altri 2 con diffusa corticale e ipoplasia del corpo calloso in uno e persistentemente allargato terzo ventricoli e T2\/FLAIR iperintensit\u00e0 subcorticale nell’altro. 6. Parametri di crescita\/dismorfismo<\/strong> Due delle ragazze con varianti de novo hanno microcefalia. C’\u00e8 l’evidenza emergente che una particolare variante ricorrente nelle femmine \u00e8 associata con una significativa mancanza di crescita e bassa statura. Sottili caratteristiche dismorfiche sono state notate in 3 ragazze tra cui fessure palpebrali inclinate verso il basso con ponte nasale depresso. 7. Caratteristiche aggiuntive<\/strong> Due delle cinque bambine hanno avuto significative difficolt\u00e0 di alimentazione nell’infanzia; una aveva un’ernia diaframmatica congenita (CDH) e displasia bilaterale dell’anca e una aveva la scoliosi. Tuttavia, la patogenicit\u00e0 della variante CLCN4 riportata nell’individuo con CDH \u00e8 incerta, e non \u00e8 certo che la variante CLCN4 sia causale della CDH.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Video” _builder_version=”4.16″ background_color=”#3a897e” custom_padding=”0|1px|0|0px|false|false” collapsed=”off” global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_divider show_divider=”off” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ fullwidth=”on” _builder_version=”4.16″ background_color=”#f7f9f9″ global_colors_info=”{}” use_background_color_gradient__hover=”off” use_background_color_gradient__hover_enabled=”off” background_color_gradient_start__hover=”#2b87da” background_color_gradient_start__hover_enabled=”#2b87da” background_color_gradient_end__hover=”#29c4a9″ background_color_gradient_end__hover_enabled=”#29c4a9″ background_color_gradient_type__hover=”linear” background_color_gradient_type__hover_enabled=”linear” background_color_gradient_direction__hover=”180deg” background_color_gradient_direction__hover_enabled=”180deg” background_color_gradient_direction_radial__hover=”center” background_color_gradient_direction_radial__hover_enabled=”center” background_color_gradient_start_position__hover=”0%” background_color_gradient_start_position__hover_enabled=”0%” background_color_gradient_end_position__hover=”100%” background_color_gradient_end_position__hover_enabled=”100%” background_color_gradient_overlays_image__hover=”off” background_color_gradient_overlays_image__hover_enabled=”off” parallax__hover=”off” parallax__hover_enabled=”off” parallax_method__hover=”on” parallax_method__hover_enabled=”on” background_size__hover=”cover” background_size__hover_enabled=”cover” background_position__hover=”center” background_position__hover_enabled=”center” background_repeat__hover=”no-repeat” background_repeat__hover_enabled=”no-repeat” background_blend__hover=”normal” background_blend__hover_enabled=”normal” allow_player_pause__hover=”off” allow_player_pause__hover_enabled=”off” background_video_pause_outside_viewport__hover=”on” background_video_pause_outside_viewport__hover_enabled=”on” background_color_gradient_stops__hover=”#2b87da 0%|#29c4a9 100%”][et_pb_fullwidth_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-23.png” _builder_version=”4.16″ animation_style=”slide” animation_direction=”bottom” animation_intensity_slide=”4%” global_colors_info=”{}”][\/et_pb_fullwidth_image][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”Footer” _builder_version=”4.16″ background_color=”rgba(14,113,98,0.9)” use_background_color_gradient=”on” background_color_gradient_stops=”#0e7162 0%|rgba(14,113,98,0.88) 100%” background_color_gradient_overlays_image=”on” background_color_gradient_start=”#0e7162″ background_color_gradient_end=”rgba(14,113,98,0.88)” background_image=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-25.jpg” collapsed=”off” global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.16″ text_font=”||||||||” text_line_height=”2em” ul_font=”||||||||” ol_font=”||||||||” header_font=”||||||||” header_2_font=”Faustina|600|||||||” header_2_font_size=”42px” header_2_line_height=”1.4em” header_3_font=”||||||||” header_4_font=”||||||||” header_5_font=”||||||||” header_6_font=”||||||||” text_orientation=”center” background_layout=”dark” max_width=”600px” module_alignment=”center” header_2_font_size_tablet=”32px” header_2_font_size_phone=”22px” header_2_font_size_last_edited=”on|desktop” locked=”off” global_colors_info=”{}”]<\/p>\n
Entra in contatto. Fatti coinvolgere<\/h2>\n
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Caratteristiche clinicheThe clinical phenotype of CLCN4-related condition can include intellectual disability or specific learning disabilities, autistic features, an increased chance of depression and anxiety, infantile hypotonia, epilepsy, movement disorders including gait disturbance, white matter changes on cerebral imaging, feeding difficulties, short stature\/ failure to thrive and functional bowel abnormalities. To date clinical information is published […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2177","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2177","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/comments?post=2177"}],"version-history":[{"count":7,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2177\/revisions"}],"predecessor-version":[{"id":7529,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/2177\/revisions\/7529"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/media?parent=2177"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}