When should the diagnosis be made?

Early diagnosis is essential. Genetic screening is recommended at birth or within the first months of life, especially in the presence of hypotonia, feeding difficulties, or developmental delay.

Is ReNU Syndrome hereditary?

ReNU Syndrome is caused by de novo variants in the KAT6A or KAT6B gene. De novo means the variant is not inherited from the parents but appears for the first time in the patient.

How is genetic diagnosis performed?

Diagnosis is made through whole exome or whole genome sequencing (WES/WGS), or targeted genetic panels. A clinical geneticist can guide the diagnostic process.

What therapies are available?

There is no specific cure, but multidisciplinary therapy is essential: speech therapy, physiotherapy, occupational therapy, and child neuropsychiatry. Early intervention significantly improves quality of life.

Does speech therapy really help?

Speech therapy is one of the most effective interventions. It works on verbal and non-verbal communication, safe feeding, and pragmatic skills. Many children with ReNU Syndrome benefit greatly from PECS and AAC therapy.

Are there clinical trials?

Research on ReNU Syndrome is still in its early stages but growing. Some trials explore HDAC inhibitors and other epigenetic modulators. Enrolling in international registries allows families to be contacted for future studies.

How can I connect with other families?

You can contact us through the form on the website or write to info@sindromerenu.it. We are also on Facebook and participating in Move4ReNU events is a great way to meet the community in person.

How can I contribute to research?

You can donate to the association, participate in fundraising events like Move4ReNU, enroll in international patient registries, and share your story to raise awareness.

Which specialists should I consult?

The ideal team includes: pediatric neurologist, clinical geneticist, speech therapist, physiotherapist, occupational therapist, child neuropsychiatrist, and often also ophthalmologist, cardiologist, and gastroenterologist for comorbidities.

Where can I find an expert center?

In Italy there are centers of excellence for rare diseases. You can consult the NHS website or contact us for guidance on centers with specific experience in ReNU Syndrome.

How many people are affected worldwide?

It is estimated that a few thousand people are affected worldwide, but many cases remain undiagnosed. With the spread of genetic sequencing, the number of diagnoses is steadily growing.

What do we know about the biological causes?

KAT6A and KAT6B encode histone acetyltransferase enzymes that regulate gene expression during embryonic development. Pathogenic variants alter these epigenetic processes, causing abnormalities in development.

What tax benefits exist for caregivers?

Caregivers of people with severe disabilities can access: IRPEF deduction for medical expenses, benefits for the purchase of aids and adapted vehicles, exemption from health co-payment. Consult a CAF or welfare office.

Is my child entitled to school support?

With disability certification, the child is entitled to a support teacher, an Individual Educational Plan (PEI), and educational assistants. It is important to request the assessment before the start of schooling.

What benefits is my child entitled to?

With the recognition of civil disability, you can access: attendance allowance, care allowance, contributions for home assistance, and variable regional contributions. Contact INPS or a welfare office.

FAQ & Anti-Bureaucracy Guide

Everything you need to know about rights, benefits and practical procedures for families with a ReNU Syndrome child in Italy.

How to apply for Law 104 How to get the Disabled Car Badge How to get the Disability Card How to request school support Which bonuses and benefits are available APE Sociale for Caregivers Extraordinary Leave ANMIC – Branches and Support Frequently Asked Questions Territorial Educator for people with disabilities First Home Mortgage: New State Guarantee

Legal disclaimer

The information in this guide is for informational purposes only and does not replace professional legal advice. For specific cases, contact a patronato or legal consultant specializing in disability law. Updated April 2026.

How to apply for Law 104

1 Ask your family doctor for a disability assessment report.
2 Submit an application to INPS via inps.it or through a free patronato.
3 Wait for the Medical Commission (ASL) appointment (may take several months).
4 In documented urgent cases, you can request an urgent visit.
5 Once the severe disability certificate (art. 3 comma 3) is obtained, you can proceed with work and school benefits.

💡 Contact info@sindromerenu.it for support during the procedure.

How to get the Disabled Car Badge

1 A ReNU child may qualify for the badge if they have walking difficulties.
2 Ask your family doctor for a specific medical certificate.
3 Submit the application to the Registry Office of your municipality.
4 The municipality issues the badge after a local medical commission visit.
5 The badge is valid for 5 years (or permanently) and renewed with new certification.

💡 The badge allows parking in reserved areas, ZTL zones and parking discounts.

How to get the Disability Card

1 The Disability Card is requested via the INPS website (myINPS) after obtaining disability recognition.
2 You need the civil disability, blindness, deafness or handicap certificate (Law 104).
3 Log in to inps.it with SPID or CIE, search for "European Disability Card".
4 The card is free and sent home.
5 Provides benefits at museums, transport, public and private facilities.

💡 The Disability Card is valid throughout Europe and is different from the car badge.

How to request school support

1 Obtain the disability certificate (Law 104 art. 3 comma 1 or 3) and functional diagnosis.
2 Submit documentation to the school before the start of the school year.
3 The school convenes the GLO to define the PEI (Individual Educational Plan).
4 The support teacher is assigned by the Regional School Office (USR).
5 If denied or hours are insufficient, you can appeal via the Civil Ombudsman or a lawyer.

💡 You have the right to a PEI even in nursery school. Don't wait for primary school!

Which bonuses and benefits are available

1 INPS Attendance Allowance: for those unable to walk or perform daily activities. Current amount about €530/month.
2 INPS Unique Allowance: for all children up to 21, with supplement for disabled children.
3 19% IRPEF deduction for medical, rehabilitation and specific assistance expenses.
4 Reduced VAT (4%) on aids and medical devices for disabled people.
5 Healthcare ticket exemption by income or pathology.
6 Benefits for purchase of adapted vehicles (4% VAT, IRPEF deduction).
7 Fund for Persons with Disabilities (FNPS) – via municipalities.

💡 Contact a patronato (CAAF, ACLI, CGIL, CISL, UIL) for free advice on bonuses and benefits.

APE Sociale for Caregivers

1 What it is: A state allowance to retire early before the standard pension age.
2 Who can apply: caregivers with a cohabiting family member with severe disability (Law 104 art. 3 comma 3) for at least 6 months, for whose care they have reduced or ceased work.
3 Minimum age: 63 years and 5 months.
4 Minimum contributions: 30 years (28 for women with 2+ children).
5 Amount: up to €1,500 gross/month, for 12 months per year.
6 Duration: from early retirement until standard pension age. Extended for those meeting requirements by December 31, 2026.
7 How to apply: submit application to INPS via inps.it or through a free patronato. Attach Law 104 art. 3 comma 3 certificate.
8 For support with patronato paperwork: ANMIC – anmic.org.

💡 Contact a patronato or ANMIC (anmic.org) for free assistance with the application.

Extraordinary Leave (2 years – Law 104)

1 A parent (or relative within 3rd degree) of a child with severe disability (Law 104 art. 3 comma 3) can use up to 2 years of paid extraordinary leave throughout their working life.
2 The extraordinary leave is covered by figurative contributions for pension purposes: the 2 years count as if you had worked.
3 Important for rare genetic diseases: for these conditions, periodic INPS review is NOT required (Law 80/2006, art. 6, and Ministerial Decree of August 2, 2007). ReNU Syndrome falls in this category.
4 How to apply: submit application to INPS via inps.it or patronato. Attach Law 104 art. 3 comma 3 certificate. Specify the rare disease exemption code to avoid revision calls.
5 The leave can be split and used in multiple periods over the years.
6 The 3 monthly Law 104 leave days are separate and do not reduce the 2-year leave entitlement.
7 ANMIC (anmic.org) offers free assistance for application and INPS follow-up.

💡 For chronic rare diseases like ReNU Syndrome, INPS revision is not required. Always keep a copy of the certificate. Contact ANMIC or a patronato for free advice.

ANMIC – Branches and Support

1 ANMIC (National Association of Disabled Civilians) offers free assistance for all disability-related procedures throughout Italy.
2 Official website: https://www.anmic.org/
3 INPS review: as per Law 80/2006 art. 6 and Ministerial Decree of August 2, 2007, for chronic diseases and rare genetic diseases, INPS review is NOT required.
4 Extraordinary leave (Law 104, 2 years) is covered by figurative pension contributions: the two years of leave count towards pension rights and calculation.
5 For assistance: contact the nearest ANMIC branch or write to info@anmic.it.

💡 ANMIC branches offer free advice on: Law 104, extraordinary leave, APE Sociale, attendance allowance, Disability Card and all INPS procedures.

Frequently Asked Questions (FAQ)

1 When should diagnosis be made? – As soon as possible. Contact clinical genetics centers experienced in rare diseases.
2 Is ReNU Syndrome hereditary? – In most cases it is sporadic (de novo). Recurrence risk is low but should be assessed with a geneticist.
3 Are there specific therapies for ReNU? – Currently no causal therapy exists. Therapies are supportive (physiotherapy, speech therapy, Feuerstein, etc.).
4 How can I connect with other Italian families? – Write to info@sindromerenu.it or join the Facebook group "Sindrome ReNU Italia".
5 How do I access research contributions? – Research advances through international studies (INDEED, RARE-X, GestaltMatcher). Contact us for information on how to participate.
6 Where can I find expert doctors in Italy? – The scientific committee is coordinated by Dr. Donatella Milani. Contact us at info@sindromerenu.it.

💡 Can't find the answer? Write to info@sindromerenu.it: we continuously add new FAQs!

Territorial Educator for people with disabilities

1 The territorial educator supports children, young people and adults with disabilities in developing autonomy, communication, social relationships and community participation.
2 The request must be submitted to the Social Services of the municipality of residence. It can generally be submitted throughout the year, but activation depends on needs assessment and available resources.
3 Milan – Service for minors and adults resident in Milan. Contact the Territorial Social Service of your Municipality. Tel. 02 02 02
4 Rome – The service is called SAISH and is for minors and adults. Tel. 06 06 06 | Email: 060606@comune.roma.it
5 The educator does NOT replace therapies or medical assistance: they implement a personalised educational project.
6 ISEE: for minors, the ISEE minorenni is used; for adults with disabilities, the socio-sanitary ISEE. Each municipality may apply different rules.

💡 Contact your municipality's Social Services to request this service.

First Home Mortgage: New State Guarantee (Law 116/2026)

1 Law 2 July 2026, no. 116 (Piano Casa) expands access to the Consap Guarantee Fund for first home mortgages. Effective from 3 August 2026.
2 Who can benefit: people with severe disability under art. 3, comma 3, Law 104/1992; households where a child or sibling with severe disability has lived for at least 2 years.
3 What it covers: state guarantee on first home mortgage up to 80% of the capital share; ISEE up to €40,000; mortgages up to €250,000.
4 How to apply: the application is submitted directly to the bank, together with the mortgage request.

💡 The Consap guarantee reduces the risk for the bank and facilitates mortgage access for low-to-middle income families. Consult your bank for specific requirements.

Frequently Asked Questions

Updated by our team

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Rights & Protections – Italian Family Network

Benefits, leave and protections under Italian law for families with a child with ReNU Syndrome.

Law 104/92 – Disability Assistance

Work leave for parents (3 days/month), extraordinary leave, tax benefits and school support. ReNU Syndrome may qualify for law 104 in serious condition (art. 3 comma 3).

Disabled Badge (Car Pass)

The disabled parking badge is requested at the municipality of residence via medical certification. It allows parking in reserved areas and circulation benefits.

School Support (Support Teacher)

A ReNU child has the right to a support teacher, an Individual Educational Plan (PEI) and specific teaching aids. Requires disability certification and UMVD assessment.

Attendance Allowance & Bonuses

INPS attendance allowance is reserved for total disabled people who cannot walk independently. Other bonuses also exist: Baby Bonus, Unique Allowance, ISEE benefits for disabled.

Disability Card (European Disability Card)

The Disability Card is a European card certifying disability and provides access to benefits in public facilities, museums, transport and services. Applied for via INPS.

ReNU Italy Family Network

Connect with other Italian families with a ReNU child. We share experiences, practical tips and emotional support. Write to us at info@sindromerenu.it to join the network!

Progetto Vita – Future Planning

PROGETTO VITA

Future planning

The Progetto Vita (Life Project) is a planning tool that helps families build a serene future for their children with ReNU Syndrome. It includes defining life goals, legal protections (support administrator, trust), living will and planning for the "After Us". A practical path to face bureaucratic, legal and financial challenges with peace of mind.

Support Administrator Legal protection for people with cognitive disability.

After Us (L. 112/2016) Tools and funds to ensure autonomy after parents's passing.

Trust & Family Funds Asset planning to protect the child's future.

Living Will (DAT) Advance healthcare directives.

Building the future together

Still have questions?

The Sindrome ReNU Italia APS team is at your disposal. We will write together to the competent institutions and support you every step of the way.

Write to info@sindromerenu.it