Chapter 54: The Child With an Intellectual Disability or Developmental Disability

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Welcome back to the Deep Dive.

Today we are focusing on a really special and honestly a critical area of nursing practice.

Absolutely.

We are taking a stack of research, specifically chapter 54 of the Maternal Child Nursing Text, sixth edition, and we are unpacking the care of the child with an intellectual or developmental disability.

It's such a massive topic and it's one of those areas where your textbook knowledge has to translate immediately into, you know, very nuanced, very human interaction.

Exactly.

This chapter isn't just about pathology.

Yeah.

It's really about the lived experience of these children and their families.

Exactly.

And just to kind of set the stage for everyone listening, whether you're a nursing student, maybe cramming for an exam, or a practicing nurse looking for a refresh, this isn't about memorizing a list of syndromes.

No, not at all.

We're talking about a population that is, well, it's growing, the prevalence is rising.

I think the number from the text is we're looking at about 2 .5 % of children having an intellectual disability.

Right.

And that means no matter where you work, whether it's the ER, a MedCert floor, a community clinic, you are going to care for these children.

It's inevitable.

It is.

And the shift we're seeing in this edition of the text and what we're going to explore today is moving beyond just treating the medical problem.

We have to look at genetic assessment, we have to look at, you know, intense family support, and we have to become advocates.

So here's our roadmap for this deep dive.

We're going to break this down step by step, just following the chapter structure.

We'll start with the foundations, the definitions, and the genetics context, because let's face it, you just can't escape genetics in this field.

You really can't.

It's everywhere now.

Then we'll move into general nursing strategies, specifically focusing on safety, which is, it's just huge for this population.

Safety is absolutely paramount here, and it looks so different than it does for a neurotypical child.

Right.

Then we get into the specifics, the different disorders.

We'll cover chromosomal disorders like Down syndrome.

The big one.

Genetic and X -linked ones like Fragile X and Rett syndrome.

Environmental issues like fetal alcohol spectrum disorder and failure to thrive.

And finally, we'll tackle autism spectrum disorder.

It's a lot of ground to cover.

It is, but we're going to make it practical.

We want you to walk away from this with tools you can actually use on your next shift.

Okay, let's jump right into section one, foundations.

I think for a lot of students, and even, you know, for experienced nurses, the terms get a little muddy.

We hear developmental disability and intellectual disability.

Are they synonyms?

That's a great question to start with.

They are related for sure, but they are definitely not synonyms.

Okay.

Think of developmental disability, or DD is the big umbrella.

It's actually a legal term.

It was defined by the Developmental Disabilities Act of 2000.

A legal bucket.

Okay, so it's a legal bucket.

What exactly goes in the before age 22, and it's likely to be lifelong.

It covers intellectual disabilities, yes, but it also covers things like sensory deficits, hearing or vision loss, or orthopedic problems like cerebral palsy, and of course, autism spectrum disorder.

So a child could have a developmental disability, but not have an intellectual disability.

Precisely.

You could have severe cerebral palsy with completely intact cognitive function.

That's a developmental disability because of the functional limitations, right?

The physical part.

But it's not an intellectual one.

Now, intellectual disability, or ID, that's more specific.

It denotes significant limitations in both intellectual capacity, which we usually measure by IQ, and adaptive behavior.

And adaptive behavior.

That's just functioning in the real world, like day -to -day stuff.

Exactly.

It's all the practical stuff.

Can they dress themselves?

Can they communicate their needs?

Can they stay safe in an environment?

You need deficits in both IQ, usually two standard deviations below the mean, and those functional skills to get the ID diagnosis.

That brings us to a concept that I found really, really helpful in the source material.

The difference between mental age and functional age.

This feels like a game changer for how we talk to our patients.

This is absolutely critical for nursing communication.

Mental age refers to the level of intellectual understanding.

So you might have a 12 -year -old patient, chronologically,

but their mental age, their cognitive processing,

is that of a five -year -old.

So as a nurse, if I'm explaining a procedure, I'm explaining it to a five -year -old.

Right.

You use simple concrete terms.

You don't use abstract metaphors like a little stick, or we're taking a picture of your bones.

No, that would be confusing.

Very.

You have to explain exactly what they will feel and see, but then you have functional age, and that's their level of adaptive functioning, their coping skills, their ability to perform activities of daily living.

And these don't always match up.

They rarely match up perfectly.

A child might have a low mental age, but through repetition and training, have a much higher functional age.

Oh, interesting.

So they might be able to feed themselves, dress themselves, and follow a schedule perfectly well, even if they can't understand the abstract concept of why they need to take their medicine.

So the nursing implication is you tailor your communication to the mental age.

Yes.

But you respect the functional age.

I like that.

That's a great way to put it.

Respect the functional age.

Yeah.

Don't assume they can't do something just because they don't understand the complex explanation.

Right.

If they can put on their own hospital gown, let them.

That autonomy is so crucial.

Now, before we get to the specific syndromes, we have to talk about the G word, genetics.

The big one.

Yeah.

The text mentions that nurses are now expected to incorporate genetic assessment.

We aren't just taking vitals anymore.

We're looking at the blueprint.

It's the new standard of care.

We aren't geneticists, of course, but we are the front line.

We need to understand the difference between genotype and phenotype.

Let's unpack that.

So genotype is the blueprint.

It's the variation in the genome, the DNA sequence.

It's what is literally written in the cells.

Phenotype is the house that gets built from that blueprint.

It's the visible physical characteristics, eye color, height, or in this case, the specific facial features we see in certain syndromes.

And mutations are the errors in that blueprint.

Yes.

And mutation can sound like a scary word, but it just means a change.

It could be a deletion of a piece of DNA, an addition, or recopying error during cell division.

Okay.

The fascinating and somewhat terrifying thing is that a tiny mutation, I mean, microscopic change in the genotype can result in enormous effects on the phenotype and on development.

And when we suspect these genetic issues, we see a specific battery of diagnostic tests.

The text outlines a table of common diagnostic tests.

And I really want to run through a few of these because the why isn't always obvious.

Let's do it.

Context is everything for these tests.

Okay.

First one,

chromosomal analysis.

That's the big picture check.

We're looking for those large scale genetic disorders we just mentioned, missing chromosomes, extra chromosomes,

like Trisomy 21.

Thyroid studies.

Why are we ordering thyroid labs for a child with a suspected developmental delay?

This is so, so relevant for Down syndrome.

Children with Down syndrome very often have hypothyroidism.

Oh, I didn't know that.

Yeah.

And if you think about it, if you have a child who already has a developmental delay and then you add untreated hypothyroidism on top of it, you're just slowing their growth and cognitive function even further.

So you're compounding the problem.

Exactly.

We need to catch that early to maximize their potential.

Okay.

Here's one that really stick out to me.

Bone rote genography.

Essentially x -rays of the bones.

Why?

This is a huge NCLEX point and a massive safety point for practice.

We use this to look at bone age.

Sure.

But specifically in children with Down syndrome, we are looking for atlanto -axial instability.

Atlanto -axial instability.

That's in the neck, right?

Yes.

The cervical spine.

Yeah.

The very first and second vertebrae.

In many children with Down syndrome, the ligaments there can be lax or loose.

So the joint is unstable.

Right.

And if that joint is unstable, there is a very real risk of spinal cord injury.

So before these kids participate in Special Olympics or any active sports, they often need this x -ray to clear them.

If we miss this, a simple tumble in gym class or even certain medical procedures could be catastrophic.

That is such a crucial nugget.

Okay.

And finally, vision and hearing tests.

Essential.

Absolutely essential.

Because sensory deficits often mimic intellectual delays.

How so?

Well, think about it.

If a child can't hear you properly, they can't learn language.

If they can't see, they can't interact with their environment in the same way.

You have to rule out sensory issues before you label a child with an intellectual disability.

It seems so obvious when you say it, but I can see how it could be missed if you just assume the lack of response is due to a cognitive delay.

It happens more often than you'd think.

A child is labeled nonverbal or low functioning, and it turns out they just needed hearing aids or glasses.

Always check the senses first.

Okay.

Let's move to section two.

General nursing strategies.

The source material highlights a study by Olten and colleagues about the hospitalized child with ID or DD.

What was the big takeaway there?

The study really focused on what they called the little things.

When a child with an intellectual disability is hospitalized, the medical stuff is obviously important, but the safety and comfort of that child depend on routines,

preferences, and non -medical comfort measures.

And who knows those routines best?

The parents.

Yeah.

Always the parents.

The study emphasizes negotiating care.

The nurse needs to acknowledge from the very beginning that the parent is the expert on this child.

So it's a partnership.

Absolutely.

If the parent says he needs his red blanket to take his meds or he only drinks from the blue cup, you get the red blanket and the blue cup.

You don't fight that battle.

It's not about control.

It's about collaboration.

It's about leveraging the parent's knowledge to through the hospital.

Stay safely.

And speaking of safety, let's look at table 54 .1 in the text.

Safety challenges.

This table breaks it down by age, but there's a common thread running through it.

The thread is executive functioning.

Executive functioning is the brain's ability to plan, to anticipate consequences, and to control impulses.

The brain's CEO, basically.

That's a great way to put it.

And children with ID often have significant deficits here.

They literally cannot anticipate that touching the hot stove will hurt or that the car won't stop if they run into the street.

They live very much in the now.

So the safety teaching has to evolve with age, but that underlying vulnerability just remains.

Right.

In preschool, we're worried about burns and poisoning.

They explore the world with their mouths.

In elementary school, it shifts to road safety and stranger danger.

They might walk off with anyone who is nice to them because they lack that social suspicion.

And adolescents, that must get really complicated.

It gets very tricky.

Sexual education is vital.

They are developing physically.

Puberty happens right on schedule, but they may not have the social judgment to navigate consent or protection.

Right.

Also, things that seem simple like safe shaving or learning to travel independently on a bus.

The text mentions that teaching these safety skills isn't a one -and -done conversation.

Never.

It requires prolonged teaching, visual reminders, and massive, massive repetition.

You can't just say, look both ways once.

You have to practice it a thousand times.

You have to build a habit because the instinct just isn't there.

There's a really striking image in the chapter, Figure 54 .1.

It shows a child in a hospital bed with respiratory support and a G -tube.

It's a heavy image, but it tells a story.

It really does.

And it serves to remind us that ID rarely travels alone.

These children often have significant comorbidities,

gastroesophageal reflux, aspiration pneumonia, seizures.

So it's medically complex.

Very.

When you see a child with severe ID, you need to be assessing the whole body, not just the brain.

You're thinking about GI, respiratory, neuro,

all of it.

And the impact on the family?

The text uses the phrase chronic sorrow.

That's a heavy term.

It's a powerful and accurate term.

It's distinct from acute grief.

It's this recurring grief.

Every time the child misses a milestone that their peers are hitting prom, driving, graduation,

the grief can resurface.

I can't even imagine.

Plus, you add the physical exhaustion of managing suctioning, feeding tubes, medications.

As nurses, we are caring to the family's exhaustion as much as the child's condition.

We have to validate that sorrow, not try to fix it.

That's a perfect segue into our first specific deep dive into a disorder, Down syndrome or Trisomy 21.

It's the most common genetic cause of ID, so every nurse will see this.

They will.

It's fundamental.

And understanding the etiology, the cause, helps explain the variation we see.

95 % of cases are pure Trisomy 21 non -disjunction.

Meaning?

Meaning every single cell in the body has an extra copy of chromosome 21.

This is the one that's strongly associated with advanced maternal age.

The risk jumps significantly, right?

It does.

At age 35, 40, and 45, the curve goes up quite steeply.

But there are two other types that can confuse people.

There's translocation, which is hereditary, not age -related.

A piece of chromosome 21 breaks off and attaches to another one.

So it can be passed down?

Yes.

And then there is mosaicism.

Mosaicism always sounds like art to me.

It's a good way to think of it.

In Mosaic Down syndrome, you have a mixture of cells.

Some cells are normal with 46 chromosomes, and some have the Trisomy with 47.

Ah, so it's a mosaic pattern.

Exactly.

And because you have that mix, the symptoms, the phenotype, are often milder.

The child might have higher cognitive function and fewer of the physical defects.

Let's talk about that phenotype.

When a baby is born, what are the telltale physical signs?

You're looking for a collection of features.

Brachycephaly, which is a shortness of the head.

A flat profile, especially the bridge of the nose.

Inner epicanthal folds at the eyes.

A protruding tongue, which is often because the oral cavity is small.

And what about on the body?

Short stature is common.

The simian crease, a single straight crease across the palm of the hand.

And a wide gap, a sandal gap between the first and second toes.

But for nursing care, the single most significant physical feature is hypotonia.

Floppy muscle tone.

Yes.

And hyperextensibility of the joints.

This floppy tone affects everything.

It affects how they hold their head up, how they sit, and critically, how they feed.

Let's look at the medical comorbidities.

Box 54 .4 in the text is just… it's a laundry list.

It is extensive.

Cardiac is the big one.

About 40 to 50 % have congenital heart defects.

That's half.

It's a huge number.

Septal defects, AV canal defects,

tetralogy of phallate.

If you have a baby with Down syndrome, you are listening to that heart very, very carefully.

And GI issues.

Hirschsprung disease and imperfect anus are more common.

You're checking for that first stool.

And we already mentioned the sensory issues earlier.

75 % have hearing loss.

75.

That is a massive number.

If you don't screen for hearing, you are missing a huge piece of the puzzle.

Many also have cataracts or strabismus, which is crossed eyes.

What about hematologic?

There is a significantly increased risk of leukemia, specifically ALL, or acute lymphoblastic leukemia.

So parents need to be educated on signs of easy bruising or persistent fatigue.

And later in life?

Looking later in life, there's a very strong link to early onset Alzheimer -type dementia, often starting in their 40s.

So knowing all this, let's translate it directly to nursing care.

If I have an infant with Down syndrome, feeding is a challenge.

Why exactly?

It goes back to the hypotonia and that protruding tongue.

The tongue thrust reflex is very strong.

They push the food out and the muscle tone for sucking is weak.

They just don't have the strength.

So they get tired easily.

Exactly.

So you need adaptive utensils, special long nipple bottles that get past the tongue thrust.

You have to be incredibly patient.

And because of the hypotonia, they're at high risk for aspiration.

Skin care is also mentioned in the text.

Their skin tends to be very dry and prone to cracking.

It seems like a minor thing.

But that cracking can be a portal for infection.

So lotions and lip balms are part of the daily routine.

And respiratory.

Again, it's the hypotonia.

They have a poor cough reflex.

They can't clear secretions well, combine that with a slightly compromised immune system, and they get respiratory infections very easily.

So a common cold can be serious.

It can be.

Routine bulb suctioning is often necessary, even when they aren't acutely ill, just to keep the airway clear.

We already touched on the atlantohoxial instability check for sports.

That's the safety priority.

But I want to circle back to the family support aspect.

The text mentions delivery room silence.

This breaks my heart every time I read it.

Parents often report that when the baby was born, the room just went quiet.

The staff saw the features.

And instead of saying congratulations,

they went silent or looked sad.

They treated it like a diagnosis instead of a delivery.

Exactly.

It frames the child as a tragedy for minute one.

And the nursing intervention here is so simple but so profound.

Congratulate the parents.

Look at his beautiful eyes.

Look at those tiny fingers.

Just be a human.

Be a human.

Encourage bonding immediately.

Treat the baby as a baby first and a diagnosis second.

Always.

That is so important.

Let's shift gears to section four, genetic and X -link disorders.

We're looking at Fragile X and Rett syndrome.

These are fascinating because they are both X -linked, but they present so, so differently.

Let's start with Fragile X syndrome or FXS.

So this is caused by a mutation on the FMR1 gene on the X chromosome.

Because males only have one X chromosome.

If they have that mutation, they get the full force of the syndrome.

But females have a backup.

Right.

Females have two Xs, so the healthy one can compensate a bit.

That's why males are more severely affected.

Females can be carriers or have much milder symptoms.

What does Fragile X look like physically?

Classically, you see a long, narrow face and large, prominent ears.

Then, after puberty, you often see macro -orchidism, which is enlarged testicles.

But the behavioral phenotype is what's really distinct here.

Very distinct.

The hallmark is gaze aversion.

They have extreme difficulty looking people in the eye.

It's not just shyness.

It's a profound social anxiety.

So forcing eye contact is not the right move.

It is the absolute worst move.

It causes them intense stress.

You might also see hand flapping and sensory integration issues like tactile defensiveness, where they can't stand the feeling of certain textures or the tags on their clothes.

So, so for a nurse?

You limit auditory and visual distractions.

You approach gently.

You speak in a calm voice.

You don't force that eye contact.

And crucially, genetic counseling is vital here.

Because it's X -linked, the mother is likely a carrier, which has implications for future pregnancies and other family members.

Now, Rett syndrome.

This one feels different.

It's almost exclusively in females.

It is because the mutation on the MEC32 gene is usually lethal in males in utero.

They often don't survive to birth.

So clinical Rett syndrome is a female disorder.

And the really scary part is the trajectory.

It's the regression.

This is the key.

These baby girls develop normally for the first six to 18 months.

They sit up.

Maybe they start to babble.

They use their hands to pick things up.

They're hitting milestones.

And then suddenly development just stops and it goes backward.

That must be absolutely devastating for parents.

It's incredibly traumatic.

They lose purposeful hand use.

And they develop this very specific, very stereotype, repetitive movement.

It looks like constant hand wringing or hand washing.

Their hands are always in motion near their chest.

And they lose speech.

Yes.

Loss of speech, gait disturbances, and seizures often develop.

The text notes it's now classified as an ASD with a known genetic cause.

But that period of regression is the key diagnostic clue.

Let's move on to section five.

Environmental and acquired disorders.

These are the ones that theoretically are preventable or manageable if we catch them.

We have to talk about fetal alcohol spectrum disorder, FASD.

Yes, we do.

This is the leading cause of preventable birth defects and intellectual disability.

And the source material is unequivocal.

No safe level of alcohol consumption has been established during pregnancy.

None.

Not a glass of wine, not a beer.

Correct.

And FASD is a spectrum.

It's not all or nothing.

But on the severe end, you have the classic physical features shown in figure 54 .4 in the text.

What are those?

A flat mid -face.

An indistinct or smooth philtrum.

That's the little groove above your upper lip.

If that groove is missing, that's a red flag.

And a thin upper lip.

And small eyes, right.

Yeah.

Short pupipral fissures.

Exactly.

But beyond the face, it's the brain.

Microcephaly or a small head.

Cognitive deficits, hyperactivity, and really, really poor judgment.

These children have permanent neurological damage.

So what are the nursing priorities for an infant with FASD?

Feeding is a big one.

They often have a poor suck and are at high risk for what we call failure to thrive.

You need patience, adaptive feeding techniques.

But honestly, the biggest nursing role here is education and family support.

Support, not judgment.

It's hard, but yes, blamed doesn't help the baby.

The mother may be feeling immense guilt.

We need to support your coping and focus on managing the child's needs now.

Speaking of feeding issues, let's discuss failure to thrive or FTT.

Some are calling it malnutrition now, which is more direct.

It is.

The definition is a weight less than the fifth percentile on the growth chart or rapid deceleration across two or more growth percentiles.

If a baby was in the 50th percentile and drops to the 10th, that's FTT.

And we divide this into organic and non -organic causes.

Organic means there's a physical problem driving it.

A heart defect burning too many calories.

Cystic fibrosis preventing nutrient absorption.

Severe reflux.

The plumbing or the engine is broken.

And non -organic.

That's psychosocial.

It could be poverty,

literally not having money for food.

It could be a lack of knowledge,

maybe diluting formula to make it stretch longer because of the cost.

Or it could be maternal depression.

Where the parent just isn't interacting or feeding frequently enough.

The assessment here sounds like detective work.

It really is.

You have to observe the feeding interaction.

Is there eye contact?

Is there syncretity between mom and baby?

Or is the child watchful and withdrawn?

A baby who is starving for affection as well as food will often look wary.

They scan the environment rather than bonding.

And the intervention is aggressive.

Very.

We aim for catch -up growth, which means growing at two to three times the normal rate.

In the hospital, we assign consistent caregivers to build trust.

You can't have a different nurse every shift feeding a child with FTT.

They need to bond with a specific person to feel safe enough to eat.

Moving to our final major section, and probably the one that gets the most media attention,

autism spectrum disorder, or ASD.

A huge topic.

And the DSM -5 really changed the landscape here.

It consolidated the old subtypes like Asperger's and PDD -NOS into one single diagnosis, ASD.

What are the core domains of that diagnosis now?

There are two main areas.

Social communication deficits and restricted repetitive behaviors.

You need to see persistent issues in both of those areas.

Before we get into the symptoms, we have to address the etiology.

The source material is very specific about vaccines.

We have to be crystal clear on this because as nurses, parents will ask you.

The text confirms.

Multiple large -scale epidemiologic studies show NO correlation between the MMR vaccine or timorosal and ASD.

None.

None.

The science on this is solid.

But nurses need to be prepared to educate parents with empathy because the fear is real even if the link isn't.

You can't just dismiss their concerns.

So what does ASD look like clinically?

In the social domain, it's often a lack of eye contact.

A lack of what we call joint attention.

You know how a toddler points at a plane and looks back at you to make sure you see it too?

Right.

Sharing the experience.

Exactly.

A child with ASD might not do that.

They might treat people like objects tools to get what they want rather than social partners.

Solitary play is common.

And communication.

Echolaria is common.

That's repeating words they hear without understanding the meaning.

Also, a very literal interpretation of language.

If you say it's raining cats and dogs, they might get confused or scared.

They miss the nuance of language.

And the repetitive behaviors.

Hand flapping, spinning, head banging.

And a rigid, intense adherence to routines.

They need things to happen the same way in the same order every single time.

This routine rigidity brings us to the nursing quality alert in the text.

This is your survival guide for the hospital.

If a child with ASD is admitted, you must maintain routine.

Ask the parents.

What time do they eat?

What cup do they use?

What is the bedtime ritual?

So you basically recreate their home environment as much as possible.

As much as you can.

If you disrupt that routine, you risk an explosion or a meltdown.

It's not them being difficult.

The routine is their anchor in a world that feels chaotic and overwhelming.

If you pull the anchor, they drift into that chaos.

Safety is another massive concern with ASD.

The text highlights wandering or elopement.

This keeps parents up at night.

These children often have little or no sense of danger and will wander off.

And the number one cause of death in these wandering scenarios is drowning.

Drowning.

That is terrifying.

It is.

They're often drawn to water.

So prevention special locks, alarms, supervision is key.

As nurses, we need to ask specifically.

Does your child wander?

Do you have locks high up on your doors?

I want to be screened for this.

The M -Chat.

That's the modified checklist for autism in toddlers.

The AAP recommends universal screening at 18 and 24 months.

Because early intervention before age 3 is the absolute best predictor of better outcomes.

So if we catch it early, we can get them into behavioral therapy.

Exactly.

We can modify behaviors, improve communication, and help them build skills to navigate the world.

Early and intensive is the goal.

We have covered an incredible amount of ground.

From the genetic blueprints to the daily realities of safety and routine.

It's a dense chapter, but it's really the heart of pediatric nursing, isn't it?

You are advocating for the most vulnerable.

Let's do a quick recap.

The key takeaways for the learner listening right now.

Okay, let's do it.

First, foundations.

Understand the difference between mental age and functional age.

Tailor your talk to the mental age, but respect the functional skills.

Okay, number two.

Down syndrome.

It's trisomy 21.

Watch for cardiac defects.

Hearing loss and that critical point.

Atlanto -axial instability before sports.

Fragile X and RET.

X -linked.

Fragile X is typically males with gaze aversion.

RET is females with that characteristic regression and hand wringing.

Environmental.

FASD is preventable and causes permanent brain damage.

Failure to thrive requires nutritional detective work and consistent caregivers to build trust.

And finally, ASD.

It's all about social communication and repetitive behaviors.

No vaccine link.

The top safety priority is wandering and drowning risk.

And your top nursing priority in the hospital is maintaining routine.

That is a solid summary.

I want to leave our listeners with one final thought from the source material.

It goes back to that concept we started with.

Functional age.

I love this concept.

It's so easy to look at a diagnosis on a chart, severe ID, down syndrome, autism, and see a ceiling.

You see the medical label.

Right, you see the limitation.

Exactly.

But supportive nursing care, the kind that focuses on adaptive skills, on dignity, on family support.

That kind of care can allow a child to function well beyond what that paper label suggests.

We aren't here to cure the disability.

We're here to maximize the potential.

Perfectly said.

Thank you so much for joining us on this deep dive into Chapter 54.

Go review those growth charts and safety tables in your text.

They are so high yield.

And good luck with your studies.

You've got this.

This has been the Last Minute Lecture Team signing off.

We'll see you in the next deep dive.