{"id":3533,"date":"2023-01-11T13:28:52","date_gmt":"2023-01-11T13:28:52","guid":{"rendered":"https:\/\/cureclcn4.org\/familles\/"},"modified":"2023-01-31T17:30:16","modified_gmt":"2023-01-31T17:30:16","slug":"familles","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/fr\/familles\/","title":{"rendered":"Familles"},"content":{"rendered":"

[et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbHeader\u00a0\u00bb _builder_version=\u00a0\u00bb3.22″ background_color=\u00a0\u00bb#f7f9f9″ parallax=\u00a0\u00bbon\u00a0\u00bb collapsed=\u00a0\u00bboff\u00a0\u00bb][et_pb_row column_structure=\u00a0\u00bb1_2,1_2″ _builder_version=\u00a0\u00bb3.25″ custom_padding=\u00a0\u00bb0px|||||\u00a0\u00bb][et_pb_column type=\u00a0\u00bb1_2″ _builder_version=\u00a0\u00bb3.25″ custom_padding=\u00a0\u00bb80px||40px|\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb0px||\u00a0\u00bb custom_padding_phone=\u00a0\u00bb\u00a0\u00bb custom_padding_last_edited=\u00a0\u00bbon|tablet\u00a0\u00bb padding_tablet=\u00a0\u00bb0px||\u00a0\u00bb padding_last_edited=\u00a0\u00bbon|tablet\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_text _builder_version=\u00a0\u00bb4.5.8″ text_font=\u00a0\u00bb||||||||\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb header_font=\u00a0\u00bbFaustina|600|||||||\u00a0\u00bb header_text_color=\u00a0\u00bb#0e7162″ header_font_size=\u00a0\u00bb60px\u00a0\u00bb header_line_height=\u00a0\u00bb1.3em\u00a0\u00bb custom_margin=\u00a0\u00bb-19px|||||\u00a0\u00bb header_font_size_tablet=\u00a0\u00bb50px\u00a0\u00bb header_font_size_phone=\u00a0\u00bb40px\u00a0\u00bb header_font_size_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb]<\/p>\n

Qu’est-ce qu’une affection li\u00e9e au CLCN4 ?<\/h1>\n

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Les affections li\u00e9es \u00e0 la CLCN4 (ou CLCN4 en abr\u00e9g\u00e9) sont caus\u00e9es par des modifications (ou \u00ab\u00a0anomalies\u00a0\u00bb) du g\u00e8ne CLCN4 qui emp\u00eachent ce dernier de fonctionner correctement. <\/p>\n

[\/et_pb_text][et_pb_text _builder_version=\u00a0\u00bb4.5.8″ text_font=\u00a0\u00bb||||||||\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb header_font=\u00a0\u00bbFaustina||||||||\u00a0\u00bb header_text_color=\u00a0\u00bb#0e7162″ header_font_size=\u00a0\u00bb60px\u00a0\u00bb header_line_height=\u00a0\u00bb1.3em\u00a0\u00bb custom_margin=\u00a0\u00bb||17px|||\u00a0\u00bb]<\/p>\n

Le g\u00e8ne CLCN4 est situ\u00e9 sur le chromosome X et est n\u00e9cessaire pour aider \u00e0 r\u00e9guler et \u00e0 contr\u00f4ler le d\u00e9veloppement et les fonctions du cerveau. Vous trouverez plus d’informations sur les g\u00e8nes et les chromosomes ici<\/a>.<\/p>\n

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Il n’y a pas deux personnes atteintes du CLCN4 qui soient identiques.<\/h2>\n

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Il n’y a pas deux personnes atteintes du CLCN4 qui soient identiques. M\u00eame les membres d’une m\u00eame famille pr\u00e9sentant la m\u00eame modification g\u00e9n\u00e9tique du g\u00e8ne CLCN4 peuvent pr\u00e9senter une gamme et une gravit\u00e9 de sympt\u00f4mes diff\u00e9rentes.<\/p>\n

Les femmes et les hommes peuvent tous deux \u00eatre affect\u00e9s par le CLCN4. L’impact sur les femmes varie souvent selon qu’elles sont la premi\u00e8re personne de la famille \u00e0 pr\u00e9senter le changement g\u00e9n\u00e9tique CLCN4 (de novo), ou qu’elles ont h\u00e9rit\u00e9 du changement g\u00e9n\u00e9tique d’un parent (plus de d\u00e9tails ci-dessous). Tous les hommes pr\u00e9sentant une anomalie dans le g\u00e8ne CLCN4 d\u00e9velopperont certains sympt\u00f4mes, mais comme indiqu\u00e9 ci-dessous, le nombre et la gravit\u00e9 de ces sympt\u00f4mes varient \u00e9norm\u00e9ment d’un individu \u00e0 l’autre. <\/p>\n

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Quels sont les principaux sympt\u00f4mes de la CLCN4 et comment les d\u00e9pister et les traiter ?<\/h2>\n

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Les anomalies du g\u00e8ne CLCN4 ont \u00e9t\u00e9 associ\u00e9es \u00e0 une s\u00e9rie de sympt\u00f4mes affectant le syst\u00e8me nerveux (neurologique), notamment les difficult\u00e9s d’apprentissage et de comportement, l’\u00e9pilepsie, la vision et la fonction motrice. \u00c0 l’heure actuelle, moins d’une centaine de familles sont identifi\u00e9es dans le monde avec des modifications du CLCN4, ce qui signifie que nous en apprenons encore sur cette maladie. Au fur et \u00e0 mesure que nous en apprenons davantage sur le CLCN4, les sympt\u00f4mes suivants sont plus fr\u00e9quemment observ\u00e9s. Il est vraiment important de reconna\u00eetre que toutes les personnes atteintes de la CLCN4 ne pr\u00e9senteront pas tous ces probl\u00e8mes : elles peuvent n’en pr\u00e9senter qu’un ou quelques-uns, et \u00e0 des degr\u00e9s divers de gravit\u00e9. <\/p>\n

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1. Impact sur l’apprentissage et le d\u00e9veloppement <\/h2>\n

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\u00c0 ce jour, tous les hommes atteints de la maladie CLCN4 et toutes les femmes pr\u00e9sentant une modification de novo du g\u00e8ne CLCN4 pr\u00e9sentent un certain degr\u00e9 de difficult\u00e9 d’apprentissage. Cela peut aller d’un quotient intellectuel normal \u00e0 des difficult\u00e9s d’apprentissage sp\u00e9cifiques, en passant par des personnes pr\u00e9sentant une d\u00e9ficience intellectuelle limite, l\u00e9g\u00e8re ou mod\u00e9r\u00e9e-s\u00e9v\u00e8re.<\/p>\n

Les femmes qui pr\u00e9sentent une modification h\u00e9r\u00e9ditaire du g\u00e8ne CLCN4 peuvent avoir une capacit\u00e9 d’apprentissage tout \u00e0 fait normale ou pr\u00e9senter de l\u00e9g\u00e8res difficult\u00e9s d’apprentissage. Nous avons connaissance d’au moins une femme pr\u00e9sentant une variante h\u00e9r\u00e9ditaire de la CLCN4 et souffrant d’une d\u00e9ficience intellectuelle grave. Nous avons encore beaucoup \u00e0 apprendre sur les raisons pour lesquelles il existe une telle variation dans la fa\u00e7on dont le CLCN4 affecte les filles et les femmes.<\/p>\n

Il est donc important que toutes les personnes atteintes de CLCN4 consultent un p\u00e9diatre sp\u00e9cialis\u00e9 dans le d\u00e9veloppement ou un sp\u00e9cialiste de l’apprentissage (tel qu’un psychologue scolaire et clinique et\/ou un conseiller scolaire) afin que leurs points forts et leurs difficult\u00e9s d’apprentissage puissent \u00eatre correctement \u00e9valu\u00e9s et qu’une intervention pr\u00e9coce appropri\u00e9e ou un soutien scolaire ou \u00e9ducatif sp\u00e9cialis\u00e9 soient mis en place.<\/p>\n

Le d\u00e9veloppement de la parole et du langage des filles comme des gar\u00e7ons est souvent particuli\u00e8rement affect\u00e9 (les enfants sont souvent plus lents \u00e0 apprendre \u00e0 parler) et l’aide \u00e0 la parole doit \u00eatre un axe particulier de l’intervention pr\u00e9coce.<\/p>\n

Au Royaume-Uni, les enfants et les jeunes ayant un trouble de l’apprentissage doivent faire l’objet d’une \u00e9valuation pour d\u00e9terminer s’ils ont des besoins \u00e9ducatifs sp\u00e9ciaux (SEN) : vous trouverez plus d’informations ici<\/a>.<\/p>\n

En Australie, les enfants et les adultes ayant un trouble de l’apprentissage peuvent b\u00e9n\u00e9ficier d’une aide par le biais du NDIS (National Disability Insurance Scheme) : vous trouverez plus d’informations sur le NDIS ici<\/a>. Votre p\u00e9diatre et votre g\u00e9n\u00e9ticien clinique peuvent r\u00e9diger une lettre de soutien pour votre demande au NDIS.<\/p>\n

Aux \u00c9tats-Unis, les enfants atteints de la CLCN4 devraient pouvoir b\u00e9n\u00e9ficier d’une intervention pr\u00e9coce financ\u00e9e en raison de l’association connue entre la CLCN4 et le retard de d\u00e9veloppement : vous trouverez plus d’informations ici<\/a> et les programmes pr\u00e9 et post scolaires sont r\u00e9sum\u00e9s ici<\/a>.<\/p>\n

Les supports suivants peuvent \u00eatre recommand\u00e9s :<\/strong><\/p>\n

Avant l’entr\u00e9e \u00e0 l’\u00e9cole :<\/strong> pathologie vocale<\/a> (pour aider au contr\u00f4le moteur de la parole et de l’alimentation) et \/ ou l’orthophonie (pour aider \u00e0 la communication), ergoth\u00e9rapie<\/a> (pour aider au d\u00e9veloppement de la motricit\u00e9 fine et \u00e0 l’apprentissage des gestes quotidiens comme s’habiller, manger et participer \u00e0 des activit\u00e9s \u00e0 la maison et \u00e0 l’ext\u00e9rieur). <\/span><\/p>\n

Physioth\u00e9rapie<\/strong> (pour aider les activit\u00e9s de motricit\u00e9 globale comme la marche et la mont\u00e9e des escaliers).<\/p>\n

Pendant la scolarit\u00e9 :<\/strong> \u00e9valuation par le conseiller scolaire et l’enseignant sp\u00e9cialis\u00e9 dans les besoins \u00e9ducatifs sp\u00e9ciaux. Les th\u00e9rapies mentionn\u00e9es ci-dessus (orthophonie, ergoth\u00e9rapie et physioth\u00e9rapie) peuvent \u00e9galement continuer \u00e0 \u00eatre utiles.<\/p>\n

Apr\u00e8s l’\u00e9cole :<\/strong> soutien suppl\u00e9mentaire pour l’enseignement et la formation sp\u00e9cialis\u00e9s. Les th\u00e9rapies mentionn\u00e9es ci-dessus (orthophonie, ergoth\u00e9rapie et physioth\u00e9rapie) peuvent \u00e9galement continuer \u00e0 \u00eatre utiles.<\/p>\n

 <\/p>\n

 <\/p>\n

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link_text_color=\u00a0\u00bb#26c699″ header_font=\u00a0\u00bb||||||||\u00a0\u00bb header_2_font=\u00a0\u00bbFaustina|600|||||||\u00a0\u00bb header_2_text_color=\u00a0\u00bb#0e7162″ header_2_font_size=\u00a0\u00bb42px\u00a0\u00bb header_2_line_height=\u00a0\u00bb1.4em\u00a0\u00bb text_orientation=\u00a0\u00bbcenter\u00a0\u00bb max_width=\u00a0\u00bb850px\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb text_font_size_tablet=\u00a0\u00bb\u00a0\u00bb text_font_size_phone=\u00a0\u00bb17px\u00a0\u00bb text_font_size_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb header_2_font_size_tablet=\u00a0\u00bb32px\u00a0\u00bb header_2_font_size_phone=\u00a0\u00bb22px\u00a0\u00bb header_2_font_size_last_edited=\u00a0\u00bbon|desktop\u00a0\u00bb locked=\u00a0\u00bboff\u00a0\u00bb]<\/p>\n

2. Autisme<\/h2>\n

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Environ 4 gar\u00e7ons sur 10 et 2 filles sur 10 atteints du CLCN4 pr\u00e9sentent des sympt\u00f4mes qui rel\u00e8vent du spectre autistique. Vous trouverez de plus amples informations sur le spectre autistique ici . Il est important que toute inqui\u00e9tude concernant un \u00e9ventuel diagnostic du spectre autistique soit soigneusement v\u00e9rifi\u00e9e, afin que les enfants ou les adultes pr\u00e9sentant ce diagnostic suppl\u00e9mentaire puissent b\u00e9n\u00e9ficier d’\u00e9valuations et d’un soutien appropri\u00e9s.<\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbVideo\u00a0\u00bb _builder_version=\u00a0\u00bb3.22″ background_color=\u00a0\u00bb#3a897e\u00a0\u00bb custom_padding=\u00a0\u00bb0|1px|0|0px|false|false\u00a0\u00bb collapsed=\u00a0\u00bboff\u00a0\u00bb][et_pb_row _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][et_pb_divider show_divider=\u00a0\u00bboff\u00a0\u00bb _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbGet Involved\u00a0\u00bb _builder_version=\u00a0\u00bb3.22″ background_color=\u00a0\u00bb#f7f9f9″ 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3. Epilepsie<\/h2>\n

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Environ la moiti\u00e9 des personnes atteintes du CLCN4 re\u00e7oivent un diagnostic d’\u00e9pilepsie au cours de leur vie. Le plus souvent, l’\u00e9pilepsie se d\u00e9clare dans la petite enfance, mais parfois, elle peut se manifester d\u00e8s l’adolescence. Vous trouverez ici<\/a> de plus amples informations sur ce qu’est l’\u00e9pilepsie, comment y faire face et vivre avec elle, ainsi que des informations sur les traitements et les th\u00e9rapies.<\/p>\n

Il est recommand\u00e9 de discuter avec un m\u00e9decin de tout mouvement inhabituel, de tout \u00a0\u00bb trou de m\u00e9moire \u00a0\u00bb ou de toute \u00a0\u00bb tournure bizarre \u00ab\u00a0. Toute inqui\u00e9tude concernant la possibilit\u00e9 qu’une personne fasse des crises d’\u00e9pilepsie doit faire l’objet d’un examen, par exemple un EEG<\/a> (enregistrement des ondes c\u00e9r\u00e9brales). Il peut \u00e9galement \u00eatre utile pour un parent ou un soignant de filmer tout \u00e9v\u00e9nement qu’il pense \u00eatre une crise d’\u00e9pilepsie \u00e0 l’aide de son smartphone ou d’une cam\u00e9ra et de garder une trace de ces informations pour les partager avec les m\u00e9decins, par exemple en utilisant un registre<\/a> ou un journal des \u00e9v\u00e9nements<\/a>.<\/p>\n

[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbVideo\u00a0\u00bb _builder_version=\u00a0\u00bb3.22″ background_color=\u00a0\u00bb#3a897e\u00a0\u00bb custom_padding=\u00a0\u00bb0|1px|0|0px|false|false\u00a0\u00bb collapsed=\u00a0\u00bboff\u00a0\u00bb][et_pb_row _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″ _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][et_pb_divider show_divider=\u00a0\u00bboff\u00a0\u00bb _builder_version=\u00a0\u00bb4.5.8″ _module_preset=\u00a0\u00bbdefault\u00a0\u00bb][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00a0\u00bb1″ admin_label=\u00a0\u00bbGet Involved\u00a0\u00bb _builder_version=\u00a0\u00bb3.22″ background_color=\u00a0\u00bb#f7f9f9″ 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4. Autres impacts neurologiques (syst\u00e8me nerveux)<\/h2>\n

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Bien que certaines personnes atteintes de CLCN4 aient un d\u00e9veloppement moteur (mouvement) tout \u00e0 fait typique, de nombreux enfants seront plus lents \u00e0 atteindre les \u00e9tapes cl\u00e9s de la petite enfance que sont la position assise, la position debout et la marche. De nombreux enfants ont un tonus musculaire du bas du corps lorsqu’ils sont b\u00e9b\u00e9s ou jeunes enfants. La physioth\u00e9rapie peut \u00eatre tr\u00e8s utile. Une partie des enfants marche avec une posture large, est quelque peu h\u00e9sitante et peut avoir des mouvements inhabituels (battements de mains ou tremblements). Il est donc utile qu’un m\u00e9decin neurologue (sp\u00e9cialiste du syst\u00e8me nerveux) \u00e9value soigneusement ces aspects et conseille les th\u00e9rapies appropri\u00e9es. <\/p>\n

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5. Difficult\u00e9s d’alimentation, reflux gastro-\u0153sophagien, constipation et\/ou ralentissement de la croissance.<\/h2>\n

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A proportion of children with CLCN4 have \u2018functional\u2019 gastrointestinal symptoms such as gastroesophageal reflux<\/a>, constipation<\/a> or difficulties with feeding and gaining weight<\/a>. In particular, slow gains in weight, height and head circumference have been linked to specific genetic changes within the CLCN4 gene, (such as the recurrent amino acid substitution from arginine to valine at position 555 of the protein p.Arg555Val recurrent genetic variant in females).<\/p>\n

It is recommended that all children have regular weight, heights and head circumferences measured by their family doctor and\/ or paediatrician. Symptoms of gastroesophageal reflux and constipation should be checked for and treated. If there are concerns regarding growth, a referral to an endocrinology (hormone) specialist doctor may be appropriate.<\/p>\n

 <\/p>\n

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6. Audience et vision<\/h2>\n

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Pour tous les enfants pr\u00e9sentant un risque accru de retard de d\u00e9veloppement, il est important que leur audition et leur vision soient contr\u00f4l\u00e9es. Nous recommandons \u00e0 toutes les personnes atteintes de CLCN4 de subir un contr\u00f4le formel de leur vision (yeux) et de leur audition (ou\u00efe). Une petite proportion d’enfants atteints de CLCN4 peut pr\u00e9senter des probl\u00e8mes oculaires sp\u00e9cifiques tels qu’un strabisme<\/a> (\u00ab\u00a0rotation\u00a0\u00bb de l’\u0153il) ou des difficult\u00e9s visuelles dues \u00e0 une hyperm\u00e9tropie ou une myopie<\/a>, \u00e0 des probl\u00e8mes du nerf optique (atrophie du nerf optique) ou \u00e0 une \u00ab\u00a0d\u00e9ficience visuelle corticale<\/a>\u00ab\u00a0. Tout probl\u00e8me de vue doit \u00eatre examin\u00e9 par un optom\u00e9triste et\/ou un ophtalmologue (m\u00e9decin sp\u00e9cialiste des yeux).<\/p>\n

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7. Conditions de sant\u00e9 mentale<\/h2>\n

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Les troubles de la sant\u00e9 mentale sont courants dans la population g\u00e9n\u00e9rale, mais les recherches men\u00e9es jusqu’\u00e0 pr\u00e9sent sugg\u00e8rent que les adolescents et les adultes atteints de CLCN4 ont plus de chances de subir des r\u00e9percussions sur leur sant\u00e9 mentale et leur bien-\u00eatre, comme l’anxi\u00e9t\u00e9, la d\u00e9pression et les troubles affectifs bipolaires. Il est important que toute pr\u00e9occupation concernant le bien-\u00eatre mental d’une personne soit reconnue afin que des traitements et des soutiens appropri\u00e9s puissent \u00eatre mis en place. Pour les personnes dont les comp\u00e9tences linguistiques sont limit\u00e9es, les changements dans leur bien-\u00eatre \u00e9motionnel et mental peuvent se manifester par des modifications de leur comportement. Pour plus d’informations sur Il est important que le m\u00e9decin de famille et\/ou le p\u00e9diatre d’une personne s’entretiennent r\u00e9guli\u00e8rement avec les patients et les personnes qui s’en occupent au sujet de leur bien-\u00eatre \u00e9motionnel. Vous trouverez des informations g\u00e9n\u00e9rales et des listes de contr\u00f4le sur la sant\u00e9 mentale ici<\/a>, et des informations sp\u00e9cifiques aux personnes ayant des difficult\u00e9s d’apprentissage ici<\/a>. (Australie). Ce site Web<\/a> propose des liens et des fiches pratiques \u00e0 l’intention des parents pour les aider \u00e0 reconna\u00eetre et \u00e0 soutenir le bien-\u00eatre mental et le comportement des enfants ayant des difficult\u00e9s d’apprentissage dues \u00e0 des conditions g\u00e9n\u00e9tiques. <\/p>\n

Dans l’ensemble, il est recommand\u00e9 que les personnes CLCN4 passent au moins un examen de sant\u00e9 annuel avec leur m\u00e9decin de famille et\/ou leur p\u00e9diatre afin de v\u00e9rifier leur bien-\u00eatre physique et \u00e9motionnel. <\/p>\n

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Prenez contact avec nous. Participez.<\/h2>\n

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Informations pour les familles ayant re\u00e7u un nouveau diagnostic d’une affection li\u00e9e au CLCN4.<\/p>\n","protected":false},"author":1,"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-3533","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3533","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/comments?post=3533"}],"version-history":[{"count":7,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3533\/revisions"}],"predecessor-version":[{"id":3860,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3533\/revisions\/3860"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/media?parent=3533"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}